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REPRODUCTION

The document provides comprehensive notes on reproduction, detailing both asexual and sexual reproduction, including their characteristics, advantages, and disadvantages. Asexual reproduction is characterized by the absence of gamete fusion and involves a single parent, while sexual reproduction involves the combination of genetic material from two gametes. The document also explains the processes of meiosis and spermatogenesis, highlighting the stages and significance of each process.

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0% found this document useful (0 votes)
3 views

REPRODUCTION

The document provides comprehensive notes on reproduction, detailing both asexual and sexual reproduction, including their characteristics, advantages, and disadvantages. Asexual reproduction is characterized by the absence of gamete fusion and involves a single parent, while sexual reproduction involves the combination of genetic material from two gametes. The document also explains the processes of meiosis and spermatogenesis, highlighting the stages and significance of each process.

Uploaded by

masanja
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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BIOLOGY NOTES FOR ADVANCED LEVEL

REPRODUCTION

Reproduction Is the ability of an organism to produce an individual of its type in order toincrease the
number of individuals of that species.

Means or types of reproduction


1. Asexual reproduction.
2. Sexual reproduction.

ASEXUAL REPRODUCTION
Asexual reproduction is the type of reproduction which does not involve the fusion of
gametes. It does not involve two parents that is only one parent is involved to produce offsprings.

Characteristics of asexual reproduction.


 Proceeds without fusion of gametes (asexual).
 A single parent is capable of asexual reproduction.
 It is a product of mitosis.
 It occurs fast enough to prevent the chances of occurring of sexual reproduction.
 It has few stages before the offspring are produced.

Advantages
 It is a quick process yielding a substantial number of offspring to increase the chances of survival
of the species during unfavourable environmental conditions..
 It eliminates the possibilities of occurrence of sexual reproduction.
 No changes of genetic makeup as the process is a product of mitosis. This is a way of maintaining
good qualities in a population.
 No mixing of materials from more than one parent therefore contamination and
infections are minimized.

Disadvantages
 Fast yielding of offspring leads to overcrowding and hence competition over necessities of life
among organisms e.g. light, food, mineral salts, air etc.

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 The DNA replication does not mutate it


produces daughter cell exactly the same as
the mother cell no variation. This makes
the individual less potential evolve into
new species and cope with the
environmental challenges.
 It may be a way to propagate defective
gene into species/progeny the defective
gene may affect the entire population.
 The process involves no mixing of gene
from the two different parents this
eliminates the diversity or divergence Fragmentation
among the individuals of the same species Is a form of asexual reproduction by which orga
hence limits the advancement of the entire nism breaks into two or more parts each
species. of which grows into a new individual. E.g. spiro
gyra, ribbon, worms.
Types of asexual reproduction
Binary fission

Sporulation
Is the form of asexual reproduction which involv
Multiple fission e production of spores which are then
Is the repeated division of cells to form more tha dispersed for germination to grow into a new ind
n two daughter cells e.g. Plasmodium ividual. Eg fungi, plants.
which has infected liver cells.

Vegetative propagation
Budding: Is the form of asexual reproduction in which a b
Budding is the form of asexual reproduction in ud grows and develop into a new plant. Eg. A ste
which new individual is produced as outgrowth m of cassava develops into a cassava plant.
(bud) of the parent and later is released as indep
endent identical copy of the parent. Eg yeast and SEXUAL REPRODUCTION.
hydra Sexual reproduction is the production of new org
anism by combining the genetic
material of two sex cells (gametes) from either a
single parent or two different parents.

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The two main processes of sexual reproduction a moutside, this might not occur; the process
re:­ of fertilization might fail on the way to
 Meiosis which involves halving the number produce the zygote.
of chromosomes. Even in internal fertilization so many risk o
 Fertilization involving the fusion of two ga f missing a mate, killing of sperms by acidi
metes and the restoration of the original cfluids in female reproductive organs etc re
number of chromosomes. duces the probability of occurance of sexua
l reproduction.
During meiosis the chromosomes of each pair us  Maturity of offspring is slowly achieved.
ually cross over to achieve homologous This delays their production of offspring and ma
recombination during sexual fertilization. y lead to extinction of the species in
case of disaster.
Characteristics of asexual reproduction.
 It involves the application of gametes (sex MEIOSIS:
cells) hence termed sexual reproduction. Th Meiosis is the type of nuclear division which
etwo sex cells may come from two differen result with four daughters cucle each havinghalf
t parents (i.e. dioecious) or from single pare the number of chromosomes of the parent cell. It
nt (i.e. monoeciousness). is also termed as redction division as it reduces
The sex cells can be isogametes (i.e. gamet the number of chromosomes from diploid (2n) to
es of same morphology from lower animals haploid (n). it is mainly a means of gametes
to higher animals respectively. formatin.
 The organisms carrying out sexual reprodu The human gamete has 23 chromosomes, 33 of
ction may be monoecious or dioecious. which are autosomes and 1 sex chromosomeof
 The process involves lots of stages which sparm cell has 23 chromosome
may delay the product. i.e. 22A + 1 sex chromosome
22A + x or y sex chromosome
An ovam:
22A + 1 sex chromosome
22A + x chromosome
 The process is associated with lots of risks
e.g. risk to miss a mate, to miss fertilization SOME TERMS USED:
etc. Chromosome: A thread like structure visible in
 Provides variation among the offsprings by the nucleus of a cell during nuclear
its;Meiosis involving crossing over which p division
roduce, recombinant chromosomes and nor Sex chromosoe: Chromosomes responsible for
mal chromosomes. determination of sex of an
Random fertilization where genes are rando individual
mly mixed (i.e. random combination of Autosome: Chromosome responsible for
genes occurs due to any sperm fertilize the determination of characters other than sex
given egg). Fig .Structure of Chromosome
 The process is affected by age where the yo
ung and old cannot reproduce while adults
can.

Advantages of sexual reproduction


 It involves more space for genetic shuffling
which leads to the evolution of the
organism.
 It produces variation in the offspring when
crossing over during prophase I and rando
massortment during metaphaseI occurs. Va
riation will increase the survival of the spec
ies and prevent from extinction.
 The process delays the production of offspr
ing due to age factor. The delayed product i
sa natural way to reduce over population he
nce less competition among organisms.

Disadvantages of sexual reproduction


 Very uncertain especially for external fertili
zation where the sperm has to meet the ovu

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This is the largest of all stages. It is often


described in five stages consecutive stages
namely:
 Laptotene
 Zygotene
 Pachytene (lezypadid)
 Diplotene
 Diakinesis

 Leptotene (thin tread stage)


Leptetene stage initiates meiosis. During this
stage:
 Chromosomes appear as unioiled thread
like
 Chromosomes appear to be longitudinally
single
 Chromosomes appear to have dense
granules which occur at irregular
intervals along their lengths. These are called
choromosomeres

Phases of meiosis:
Meiosis is a long process as it passes through
two cycles to completion
(a) Meiosis I or first meiotic division
(b) Meiosis II or second meiotic division

Meiosis I
This reduces the number of chromosomes to
half.
Meiosis I has the following phases:
(i) Interphase I
(ii) Prophase I
(iii) Metaphase I
(iv) Anaphase I
(v) Telophase I

Interphase I
It is a preparatory phase during which the
nucleus is about to start dividing. The events of
interphases one include the following:
 Replication of organalles
 Zygotene (pairing stage)
 Increase in size of the cell
 Replication of most of DNA and histories This is initiated by the movement of chromones
 The chromosomes replicate so that each of in the zygotene stage.
 Homologous chromosomes more close to
them exist as a pair of chromotids being
one another and up they lie side by side,
joined together by the centromere
chromosomere by chromosomere under the
 The chromosomal material will but no
influence of attraction force called
structure is clearly visible except the
nucleoli synaptic force
 Synapsis begins at one or more points
along the chromosome and unites along the
Poophase I
entire length

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 Diakinesis (moving apart stages)


During Diakinesis:
 The nucleolus detaches from its special
bivalent and disappears.
 Pachytene (thickening stage)  The chiasmata tend to lose their original
position and move towards the ends of
During pachytene
chromosomes
 Chromosomes are thickened and shorted by
 The bivalent become considerably more
coiling and become visible
contructed
 The nucleolus is attached to particular
chromosomes  Chromotids if homologous chromosomes
 The synaptic force of attraction start to continue to repel
 The contriolas of present migrate to the
lapse and homologous chromosomes
poles
 start to separate from each other.Each
 The nuclear membrane starts to disintegrate
chromosome appears a double structure.
and spindle fibre start to form
 Diplotene (duplication stage)
 There is a complete duplication of each Mataphase I
During Metaphase of meiosis:
chromosome to produce two chromatids,
 The bivalent are arranged across the
thus each bivalent has four chromatids
equitorial plate of the spindle with each;
 The chromatids of homologous
centromere equidistant from the equatorial plate;
chromosomes cross over one another. At
the point called chiasmata or cros over the  The nuclear membrane has broken down
number of chiasmata to be formed depends completely;
 The spindle fibre forms and hold the
on the length of the chromosome. At the
centromers at the equator.
chiasmata, chromosomes breaks and rejoin,
thereby exchanging hereditary materials.
As a result, genes from materinal
chromosomes exchange with genes from Anaphase I
paternal chromosomes leading to new gone During this phase:
 The two centromenes of each bivalent do
combination in the resulting chromatids.
not divide, instead the siste chromatids
This is a means of bringing about variation
separate;

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 The centomere pairs move toward the  Nucleoli and nuclear membrane start to
opposite poles; disintegrate.
 The chiasmata contents completely  The chromatids shorter and thicken.
breakdown.  Cantoriols if present move to opposite
 The chromosome are separate into two poles the cell.
haploid sets of chromosomes in the  Spindle fibre appear.
daughter cells.
Metaphane II
Telophase I The chentromeres align at the equator of the
This marks the end of meiosis. During this spindle.
phase,
 The homologous chromosomes arrive at the Anaphase II
opposite poles.  The centromeres divide
 Spindle fibre disappears, chromatids uncoil  The spindle fibres shorters and pull the
and the nuclear membrane rejoin around centromeres to opposite poles
each pole.  The eytoplasm started to cleave
 Cytoplasm dividing to form two daughter
cells. Telophase II
 The chromosomes uncoil
 Spindle fibre disappear
 nuclear membrane reforms followed by
complete cytokinesis
 Four daughter cells are formed each with
half the number of chromosomes of the
parent cell

N.B: In many plant cells there is no telephase,


cell wall formation on interphase I. the
cell pass straight from anaphase to prophase II.

Meiosis II
Processes involved in meosis II are:

Interphase II
This occurs in animal cell only is there is no Significance of meiosis:
interphase II in plant cell. Replication of  It insures constant chromosome number to
DNA doe snot occur and energy stores of the all species which reproduce sexually. This
cell increases. This stage is followed by is because during gametes formation. The
meiosis II. The behavior of chromosomes in number of chromosomes is reduced to half
meiosis II is the same as that in meiosis I. and restored at fertilization.
 It provide opportunities for new gene
Prophase II combination through chiasmata formation.
During this phase: Hence a mechanism of variation.

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Spermatogenesis
Difference between meiosis and mitosis In male testis there are tiny tubules (seminiferou
s tubules) containing diploid cells calledspermat
stage meosis ogonia that develop into mature spermatozoa (sp
Occurance  ermatozoa are the mature male
occurs in the formation of somatic
cell 1
gametes in many sexually reproducing organis
Prophase  chromosomes not visible ms).The seminiferous tubular contain two types
 Homologous chromosome remain of cell;
separate Germ cells; these undergo the two division of m
 No chiasmata formation eiosis to form the spermatozoa
Sertoli Cells: Acts as nerve cells ensuring that th
Metaphas  chromaitd pairs line up on the
e germ cells have adequate
e equator of the spindle centromores
nourishment.
line up on the equator

Anaphase  chromatids separate number ofchromo


 Around the periphery of the seminiferous t
some present as parent cell
ubules are located specialized cells knowna
 –Separated chromatids identica
s spermatogonia.Spermatogonia are diploi
d cells set aside early in embryonic develop
ment.
 Theydivide by mitosis to generate more spe
rmatogonia or by meiosis to produce sperm
Telophase  Both homologous chromosomes
atids
are in each daughter cell
each of which will differentiate into a matu
re sperm cell.
Spermatogonia destined to undergo meiosis
first differentiate into primary
STAGES OF SEXUAL REPRODUCTION spermatocytes which undergo two successi
Sexual reproduction involves the following stage ve meiosis divisions.After meiosis I the pro
s:­ duced cells are called secondary spermatoc
 gametogenesis yte which each in turnundergoes the second
 Copulation
ary division become spermatids each contai
 Fertilization
ning a unique set of 23single chromosomes
 Cleavage that ultimately mature into four sperm cells
 Implantation (spermatozoa).
 Pregnancy
 Parturition(birth) Summary of spermatogenesis
 Parental case.
 Diploid spermatogonia divide by mitosis fr
om germinal epithelium (germinal epithelia
l cells).
 GAMETOGENESIS.  Some of them grow to produce diploid pri
Gametogenesis is the general process of gametes mary spermatocytes.
formation in both male and female  Diploid spermatocytes undergo first meioti
reproducing sexually
c division to form two haploid secondary
Meiosis is the process by which gametes are for
spermatocytes.
med can also be called gametogenesis  Haploid secondary spermatocytes undergo
literally ‘creation of gametes’. second meiotic division to form haploid
spermatids.
The type of meiosis in male organism from a spe  These grow in shape and become spermato
rmatogonium to a primary
zoan.
Spermatocyte, a secondary spermatocyte, a sp
 The sertoli cells provide nutrition and prote
ermatid and finally a spermatozoid is called ction against body immune system.
spermatogenesis.
The process of meiosis in female organism from
oogonium to a primary oocyte,
a secondary oocyte and then an ovum (egg cell)
is called oogenesis.
The primordial germ cells once they have been p
opulated the gonalds proliferate into
sperm (in testes) or ova (in the ovary). 1

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Mechanism of spermatogenesis
Fig: The stages of spermartozoa formation. The process of spermatogenesis is divided into t
he following phases (as shown below):­
 Multiplication phase.
 Growth phase.
 Maturation phase.
 Metamorphosis.

 Multiplication phase
Also known as spermatocytogenesis.
Here the sperm mother cells present in the germi
nal epithelium of the seminiferous
tubules divide repeatedly by mitosis to form a lar
ge number of diploid rounded sperm
mother cells called spermatogonia.
Some of these sex cells move towards the lumen
of seminiferous tubules and enter growthphase.
These cells are called primary spermatocytes. Th
e primary spermatocytes are diploid
Fig: and contain (44 + XY) chromosomes.
Diagram showing the structure of part of the Some of these cells produced by the division of s
wall of seminiferous tubule. pematogonia remain in the original
condition and continues to divide giving rise to p
rimary spermatocytes such cells are known
The interior of the testis, site of spermatogenesis as stem cells.
within the seminiferous tubules of the testiscells
called spermatogonia develop into sperm, passin  Growth phase
g through spermatocyte and spermatid During this phase, spermatocyte as well as its nu
stages. Each cleus enlarges in size. It gets ready to
sperm passes as a long tail coupled to a head whi undergo meiotic division.
ch contain a haploid nucleus.
 Maturation phase
Each diploid primary spermatocyte undergoes m
eiosis I which is a reduction division.
Two daughter cells are formed with ‘n’ number
of chromosomes. The daughter cells arecalled se
condary spermatocytes are haploid and much sm

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aller comparatively containing (22+ X) or (22 + [NB: There is no direct evidence for this nutritio
Y)chromosomes. nal function of the sertoli cells, but
The secondary spermatocyte undergoes the seco some sperms of male sterility are associated with
nd meiotic division (equational). This results the failure to product normal sertoli
in the formation of four daughter cells known as cells]
spermati
Cellular events in human spermatogenesis
 Metamorphosis. Sertoli cells support the developing gametes in t
The spermatids formed as a result of maturation he following ways:­
division in a typical animal cell with all thecell o  Maintain the environment necessary for de
rganelles present in it. velopment and maturation via the blo
In this form it cannot function as a male gamete. od test is barriers.
So manychanges take place to change  Secretes substances initiating meiosis.
the non – motile spermatid into motile spermatoz  Secretes supporting testicular fluid.
oa.  Secrete the androgen – binding protein whi
The main aim of the changes is to increase the m ch concentrates high quantities of
otility of the sperm. These changes are:­ testosterone in close proximity to the devel
 Nucleus shrinks by losing water and DNA oping gametes.
becomes closely packed.
 An acrosome is formed from the Golgi com Testosterone is produced by intestinal cells (leyd
plex. ig cells) which reside adjacent to the
 An axial filament of the tail of the spermato seminiferous tubules.
zoa is formed from the distal centriole of th  1Secrete hormones affecting pituitary gland
e spermatid. control of spermatogenesis, particularly th
 Mitochondrial ring is formed from the mito e polypeptide hormone, inhibin.
chondria around the distal centrioles and is  Phagocytise residual left over from spermi
called. ogenesis.
 Much of the cytoplasm of the spermatid is  Release anti – mullerian hormone (AMH)
lost and the remaining cytoplasm forms a which prevents formation of the mullerian/
sheath around the mitochondrial spiral. Thi oviduct.
s is known as manchette.
During the process of differentiation, the de NB: Seminiferous epithelium in sensitive to elev
veloping sperms have their head embeddedi ated temperature in humans and will be
n the sertoli cells which are thought to prov adversely affected by temperature as high as nor
ide nutrition for the developing spermsbeca mal body temperature.
use their cytoplasm contains large stores of Consequently, the testes are located outside the
glycogen which diminish as spermatid body in a sack of skin called the scrotum. Optim
mature. al temperature is maintained at 2C (man) ­8 C
below body temperature.
This is achieved by regulation of blood flow and
positioning towards and away from the heatof th
e body by the cremasteric muscle and dartos sm
ooth muscles in the scrotum.Dietary deficiency (
such as vitamins B, E and A), anabolic steroids,
metals (calcium andlead) X – ray exposure, diox
in, alcohol and infectious diseases will also adve
rsely affectthe rate of spermatogenesis.

THE HORMONAL CONTROL OF SPERMAT


OGENESIS
The hormonal control of spermatogenesis varies
among species.
In humans,mechanisms are not known completel
y, however, it is known that initiation of spermat
ogenesis occurs at puberty due to the interaction
of the hypothalamus pituitary
gland and leydig cells.

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The hormones that are closely related to spermat The FSH is known to increase the yield of sperm
ogenesis are the lutenizing hormone, atogonia by preventing atresia of
the follicle stimulating hormone (FSH) and testo differentiating spermatogonia.
sterone (T). Normally 50% of spermatogonia can also be red
 LH controls spermatogenesis via the secreti uced by increased sexual activity.
on of testosterone by leydig cells (3, 4, 5). FSH levels in males are environmentally influen
 Testosterone mainly acts onto sertoli cells b ced, increased by sexual activity and
y increasing their responsiveness to FSH an decreased by inhibin.Androgens are transported
dsimultaneously inhibits the secretion of L from the site of production (leydig cells) to influ
H by the mechanism of feed back upon the ence the developing germ cells.
hypothalamus and the pituitary. ABP produced by the sertoli cells and shed into
 FSH controls the maturation of the spermat the adluminal compartment, assists in
ic epithelium by acting directly on the serto the role as well as transporting large amount of a
li ndrogens to epididymis.
cells.
Finally the protein which binds to the androgens First stimulates ABP synthesis under the action o
(ABP) is produced by the sertoli cells. f androgen influence.
Testosterone induces and maintains spermatogen
esis acting through the sertoli cells or
through spermatogenetic cells.The testis also sec
retes some other hormones that participate in the
regulation ofspermatogenesis, but their cells are
not closely understood. These include:­
 Estradiol formerly known as female sex ho
rmone. These estradiol receptors are widely
distributed in testicular cells, suggesting a r
ole of oestrogens in the regulation of testicu
lar function.
The receptors are localized in the nuclei of
spermatogonia, spermatocytes and early
developing spermatids of adult men.
 Inhibin – (Inh – b), this is produced by the
sertoli cells and controls the secretion of FS
Hfrom the pituitary and consequently the s
permatogenesis, via a negative feedbackme
chanism. Low blood concentration of inh –
b of ten reflect in a disorder of
spermatogenesis.
 Antimullerian hormoneExclusively secrete
d by the sertoli cells and represents a prelo
cious hormonal index of their function.
Its production is influenced by transcription
al factors testosterone, FSH and spermatoc
ytes at
prophase I. It prevents formation of mulleri
an duct.

Mechanism of hormonal control of spermatoge


Hormonal interaction in the hypothalamus pitu nesis:
itary  When the level of testosterone is lower,the
hypothalamus secretes gonadotrophin relea
FSH is necessary to develop the ABP production sing hormone (GnRH) which travels in asm
by the sertoli cells and to develop the all vein from the hypothalamus to the pituit
blood testis barrier and other functions of these c ary gland.
ells.  GnRH stimulates in turn the anterior pituit
Once the sertoli function is developed, testostero ary gland to secrete two hormones know as
ne alone will maintain spermatogenesis. gonadotrophins. (A gonadotrophin is a hor
The yield of spermatozoa is increased if FSH is mone that stimulates a gonad, in this case t
present. hetestis).

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 These gonadotrophins are follicle stimulati


ng hormone (FSH) and lutenizing
hormone (LH). Also secreted in female they
are glycoproteins.
 FSH acts by stimulating spermatogenesis b
y stimulating the sertoli cells to complete th
e
development of spermatozoa from spermati
ds.
 LH stimulates the synthesis of the hormone
testosterone by the leydig cells (interstitialc
ells) of the testis. It is therefore known inter
stitial cells stimulating hormone (ICSH) in
the male
 Testosterone stimulates growth and develo
pment of the germinal epithelial cells
(spermatogonia) to form sperms and also w
ork with the FSH to stimulate the sertoli
cells.
 The negative feedback mechanism operates
where by an increase in the level of testost
eroneresults in a decrease in secretion of G
nRH from the hypothalamus, this in turn re
sults in declining levels of LH and FSH.
The testosterone also acts directly on the a
nterior pituitary gland to reduce LH secreti
on but this effect is weaker.
 When the rate of spermatogenesis in high, i The role of cyclic AMP
nhibin (a glycoprotein hormone) is release Both FSH and LH acts by causing the release of
d, itacts on the anterior pituitary gland to r cyclic AMP (Adenosine monophosphate)
educe the secretion of FSH by negative feed within the cells they stimulate.
back mechanism. Cyclic AMP is the second messenger system. It i
It also has a slight effect in the hypothalam s released into the cytoplasm and thenpasses to t
us reducing GnRH secretion. When the rate he nucleus where it stimulates the synthesis of e
ofspermatogenesis low, inhibin is not secre nzymes. In the case of LH, for
ted and FSH stimulates spermatogenesis. example enzymes are
NB:LH acts on the Leydig’s cells of the testes to involved in the synthesis of testosterone from ch
secrete testosterone. FSH acts on Sertoli cells olesterol.
of the seminiferous tubules of the testes to
secrete an androgen binding protein (ABP) and
inhibin. ABP concentrates testosterone in the
seminiferous tubules. Inhibin suppresses FSH
synthesis. FSH acts on spermatogonia to
stimulate sperm production

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Structure of mature human sperm

Rle of spermatozoan.
The role is to carry the paternal gamete materials
into the egg cell so that after
fertilization, the genetic makeup of the zygotOe i
s the mixture of the two maternal and
paternal gamete materials.

Adaptations of the spermatozoans.


structure of mature human spermatozoans
The adaptations of the spermatozoans to its funct
Structurally, a spermatozoan is divided into three
ion include the following:­
pieces:­
 It has an acrosome that contains enzymes f
Head piece
or digesting the egg cell membrane.
This consists of a nucleus and small portion of c
 It has numerous mitochondria that produce
ytoplasm.
energy necessary for propelling the
At the tip of the head, there is a special structure
spermatozoans towards the egg cell.
called acrosome. Acrosome is a
 It has flagellum for propelling the spermat
collection of lysosomes; it thus contains very po
ozoans for proper binding on the egg cells.
werful hydrolytic enzymes known as
 Ability to sense the chemical attractants sec
proteases and hyaluronidases.
reted egg cell so that its movement is
directed toward source of chemicals.
Middle piece
 Ability to recognize and hence bind itself in
This is largely consisting of mitochondria. These
to the receptor sites on the surface of egg
provide energy for propelling the
cells.
spermatozoans towards the egg cell. The head an
 Light nuclei and head piece following their
d middle peace together constitute the
changes, this enables it to move fastertowar
principal peace.
ds the egg cell.
He tail piece
Oogenesis
It consists of the flagellum made of axial fillame
Oogenesis begins soon after fertilization as prim
nts that continue from middle peace.
ordial germ cell travel from the york sac
The flagellum serves in:­
to the gonalds, where they to proliferate mitotica
Propelling the spermatozoans towards the egg ce
lly.
ll.
The gem cells multiply from only a few thousan
Orienting the spermatozoans so that it properly b
ds to almost 7 million.
inds itself into the egg cell.
They become oocytes once they enter the stages
At the end of the flagellum is a hair like extensio
of meiosis several months after birth,
n called the end piece.
now called primordial germ cells surrounded by
fellicle cells from the somatic line.

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The oocytes are then arrested in the first meioti meiotic and the second meiotic. The results
c phase until puberty. of maturation divisions in oogenesis are,
At puberty between 4 to 10 follicles begin to dev however, very different from those in
elop although only 1 – 2 are actually spermatogenesis. In the first, meiotic
released. division, the primary oocyte divides into
Surrounding each oocyote is a zona pellucida me two very unequal haploid daughter cells—
mbrane granule and the cell layer. a large secondary oocyte and a very small
Each oocyte finishes its first meiotic division cre first polar body or polocyte.
ating a secondary oocyte and polar
In the second maturation division, the first polar
body which serves no further functions.
body may divide to form two second polar
It begins the next meiotic cycle and is arrested in
bodies. The secondary oocyte again divides into
its second metaphase, at which point iis released
unequal daughter cells, a large ootid and a very
from the ovary in ovulation.
small second polar body. The ootid grows into a
It will not finish the meiosis cycle until it encoun
functional haploid ovum. Thus from one
ters the stimuli of a sperm
oogonium, one ovum and three polar bodies are
formed. The ovum, is the actual female gamete.
Mechanism of oogenesis
The polar bodies take no part in reproduction
At birth.
and, hence, soon degenerate.
 Diploid cells in the ovary divide by mitosis
from oogonia.
In human beings, ovum is released from the
 Oogonia undergo meiosis I division to form
ovary in the secondary oocyte stage. The
primary oocyte steps at prophase I.
maturation of secondary oocyte is completed in
These remain in the follicles.
the mother’s oviduct (Fallopian tube) usually
At puberty.
after the sperm has entered the secondary oocyte
 Primary oocyte completes the 1 complete
for fertilization
meiotic division to form polar bodies and
secondary oocyte.
 Secondary oocytes undergo 2 meiotic divi
sion and steps at metaphase II. Female germ called primary oocyte and which c
 Secondary oocyte is shed from ovary, if fer an develop further only during and after
tilized it complete its 2 meiotic division to puberty hormonal cycle is necessary.
form ovum and polar bodies.
Follicular epithelium, that can develop further f
rom the primordial follicle via several­follicle st
Phases of oogenesis: ages while oocytes remain in their primary state
 Multiplication phase: In the foetal s.
development, certain cells in the germinal The continous of the development/maturation of
epithelium of the ovary of the foetus are the oocyte begins again only a few
larger than others. These cells divide by days before ovulation.
mitosis, producing a couple of million egg The developmental sequence of a follicle goes th
mother cells or oogonia in each ovary of rough various follicle stages.
the foetus. No more oogonia are formed or
added after birth. The oogonia multiply by The developmental sequence of the female germ
mitotic divisions forming the primary cell is as follows:­
oocytes.
 Growth phase: This phase of the primary
oocyte is very long. It may extend over
many years. The oogonium grows into a The developmental sequence of a follicle goes th
large primary oocytes. Each primary oocyte rough various follicle stages
then gets surrounded by a layer of
granulosa cells to form primary follicle. A
large number of these follicles degenerate
during the period from birth to puberty. So
at puberty only 60,000­ 80,000 primary
follicles are left in each ovary. The fluid
filled cavity of the follicle is called antrum.
 Maturation phase: Like a primary
spermatocyte, each primary oocyte
undergoes two maturation divisions, first

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The granulosa cells that sit just outside on the zo


na pellucida withdraw their processes
from oocyte surface back into the pellucida zona.
These processes were in charge of
transferring substances to the oocyte.
The periritelline space forms between the oocyte
and the pellucida zona. This space is
necessary for allowing division of the oocyte and
for harbouring the first polar body
formed in the division.

The secondary oocyte


Through the effect of LH on the granulosa cells,
these have begun to loose their cellular
bends and to multiply.
They produce progesterone that is released into t
he fellicle fluid.
Though the separation of the homologous chrom
osomes in the first meiosis a haploid
(reduplicate) set of chromosomes is now to be fo
und in the secondary oocyte.
Progesterone has the following two main tasks i
n the follicle fluid:­
 It stimulates the further maturation of the o
Primary oocyte ocyte.
In the first week of the cycle the maturation of th  During ovulation, it enters the fallopian tub
e oocyte in its associated follicle es and guides the formation of a
depends on the progress of maturation of the surr concentration gradient for attracting the sp
ounding follicle cell. erm cells.
The fittest follicle with its oocyte becomes the d The follicle that is about to rapture:­
ominant follicle in the second cycle Besides the hormones the granulosa cells also se
week and later the graafian follicle.Up to just da crete an extra – cellular matrix, mainly
ys before ovulation, the maturation of the oocyte hyaluronic acid, into the follicle fluid.
consists in its ingestion ofsubstances growth of t
he yolk, they are supplied by the granulose cells. Hormonal Control of Oogenesis:
This exchange ofsubstances is mediated through GnRH secreted by the hypothalamus stimulates
cytoplast processes of the granulose cells that ar the anterior lobe of pituitary gland to secrete LH
eanchored through zona pellucida at the ocoyte s and FSH. FSH stimulates the growth of
ubstance.The oocyte nucleus is also matured in t Graafian follicles and also the development of
he last days before the LH peak egg/oocyte within the follicle to complete the
meiosis I to form secondary oocyte. FSH also
Up to this point it was arrested in the extremely stimulates the formation of oestrogens.
elongated prophase (a dictyotene) of
the first meiotic division, the corrested condition LH induces the rupture of the mature Graafian
that has existed since the foetal period.With the follicle and thereby the release of secondary
LH peak, the following maturation steps are now oocyte. Thus LH causes ovulation. In brief
triggered in and around the ovulation in human beings may be defined as the
oocyte up to ovulation. release of the secondary oocyte from the
Graafian follicle. The remaining part of the
In the oocyte: Graafian follicle is stimulated by LH to develop
Termination of the first meiosis with ejection of into corpus luteum (“yellow body”). The rising
the first polar body. level of progesterone inhibits the release of
Begin of the 2 meiosis with arrest in the metaph GnRH, which in turn, inhibits production of FSH,
ase. LH and progesterone.
Maturation of the oocyte cytoplasm by preparing
molecules and structures that will be
needed at the time of fertilization.
NB:
In the follicle:
Final steps of the maturation namely the freezing
for the second meiosis are first

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completed by the second oocyte when the sperm


atozoa have penetrated the oocyte.
Nd.The follicle and the oocyte are now ready for
ovulation that takes place roughly 38 hrs
after the LH peak.

Adaptation of the egg cell


1. Has microvilli for nutrient absorption from fol
licular cells.
Follicular cells are the cells that usually surround
the ovum when more layers are formed
they tend to push away the follicular cells.

NB: The follicular cells are not part of the egg ce


ll
 It has stored food for zygote and embryo uti
lization (i.e. the yolk sac).

 Has cortical granules (Act as vesicles) that


act to prevent polyspermy during
Fertilization.

This is done through two ways:­


The process occurs very quickly and uses the sa
me mechanism as in a chemical
transmission of impulses. It occurs soon after the
entry of a sperm cortical, are found in
the cytoplasm.

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They fuse with the membrane to release chemica


ls which haidens the membrane Steps:
forming the fertilization membrane that prevents  The sperm migrates through the coat of foll
the entry of sperms. icle cells and binds to a receptor molecule i
Destruction of the sperm receptor sites. The sper n the zona pellucida of the egg.
ms have sensors and ova have  The binding includes the acrosomal reactio
receptors­sperms move towards the ovum (like m ns in which the sperm releases digestivenzy
agnetic substance) chemotactically. mes into the zona pellucida. These enzymes
The sperms receptor sites foundon the ovum are are proteases (acrasome) an
destroyed immediately after the entry of a sperm. hyalurionidase. The latter digests the hyalu
This is done by thecortical granules. ronic acid which binds granulosa cells
together
2.Have receptor sites for spermatozoa to bind du  With the help of this hydrolytic enzyme, the
ring fertilization. sperm reaches the egg and the membrane
3.Produce chemicals that attract sperms protein of the sperm binds to the receptor o
n the egg membrane
 COPULATION – (i.e. seduction, romance This induces the influx of Ca ions that dep
and the subsequent intercourse) ensures the olarize the egg membrane. This is the firtt
transfer ofsperms from the male reproducti block of polyspermy.
ve organs to female reproductive organs for  The plasma membrane fuses making it poss
fertilization ible for sperm nucleus to enter the egg.
 The sperm egg cell fusion causes Ca influ
 FERTILIZATION x.
Is the process whereby the nucleus of the male g This inturn triggers a cortical reaction in w
amete fuses with that of the female gamete hich secretions beneath zona pellucida. The
to form diploid zygote nucleus. sesecretions swell up with water, push any
This process occurs high up in the fallopian tube. remaining sperms away from the egg ancre
Before fertilization the spermatozoa ating impermeable fertilization membrane.
has to undergo capacitation. Then the enzymes harden the zona
pellucida. This functions as the flow block t
Capacitation o polyspermy
Is the mechanism by which the spermatozoa und  The nucleus of the secondary oocyte is trig
ergo activation before fertilizing the ovum. gered to undergo meiosis II which produce
It takes about 7 hours and involves the following san octid is transformed into an ovum. The
processes nucleus of the ovum and that of spermatozo
 Removal of a layer of glycoproteins and pla abulge becoming pronida which later fuse i
sma proteins from the outer layer/surface of n the actual act of fertilization forming zyg
spermatozoa; glycoprotein are added by the
epididymis while the plasma proteins are NB: If not fertilized, the secondary oocyte dies o
from the semen. These are removed by the ff ovulation and never finishes meiosis.
enzymes in the uterus.
 Removal of cholesterol which toughens the Post – fertilization changes in the egg
sperm membrane and prevents prematurere After fertilization, the following changes occur i
lease of acrosomal enzymes from the sperm n the egg.
head membrane by the enzyme in the 1. The zygote becomes ready for the cleavage an
uterus. d for the formation of the embryo.
The advantage of capacitation is that it prev 2. The oxygen consumption of the zygote increa
ents the wastage of sperms. The membrane ses enormously.
becomes more permeable to Ca ions. 3. The metabolic rate of the zygote increases gre
atly for instance the amount of amino
The calcium ions (ca ) have two factions acids and the permeability of the plasmalema of
 Increase/enable the beating of the sperm fl the egg increases the volume of the egg
agellum. decrease the exchange of phosphate and sodium
 Promote acrosomal reaction. ions between the zygote and the
surrounding media, diffusion of the calcium ions
Mechanism of fertilization from the egg started and the
Fertilization comprises of two types of chemical hydrolysing activities of the cell.
reactions:­ 4. Protein synthesis in started.
 Acrosomal reactions.
 Cortical reactio Significance of fertilizatioN

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 The fertilization ensures the usual specific Two hours after fertilization the zygote divides
diploid of the organisms by the fusion of th mitotically to form two cells.
e male and female pronuclei. The process by which the zygote divides is calle
 The fertilization establishes definite polarit d cleavage and the resulting cells are
y in the eggs. This fertilization provides ne called blastomeres.
w genetic constitution to the zygote. After 6 hours the zygote cleaves for the second ti
 The fertilization activates the egg for the cl me forming four blastomeres.
eavage. Initially the process is regular but with time it be
 Fertilization provides a new genetic constit comes irregular in where it produces a
ution to the zygote ball of cells called morula.
 Fertilization combines characters or two pa Cleavage does not lead to increase in size of the
rents thus introducing variations and makin morula because cells still in the zona
gthe resulting individual better equipped fo pellucida.The process takes place 72 hours.
r the struggle for existence. This happens o Cleavage increases surface area to volume ratio
nly in cross fertilization. of each cell which enhances:­
 The fertilization also increases the metaboli  Rapid nutrient uptake i.e. food and oxygen.
c activities and the rate of protein synthesis  Waste removal.
of the cell. Cleavage also forms many cells which will form
different types of embryonic tissues
The concept of sterility
Sterility:
Is the failure of the matured mammal to fertilize  BLASTULATION
or to be fertilized. Is the process whereby morula is transformed int
causes of infertility o a blastula or blastula or blastocyst
 Impotence: While cleavage is taking place the zygote is in th
Is the failure of penis to erect, this can be tempor e oviduct moving slowly by the beatingaction of
ary i.e. reversible impotence caused by such the cilia in the oviduct (tubules). When it reaches
factors as;­ in the uterus the hard zonapellucida gets peeled
1. Depression due to social, economic and ethnic off by the enzymes in the uterus and leaves an o
reasons. uter layer of cellscalled trophoblast
2. Fear due to inferiority complexity, disease con The cells in the centre of the morula migrate and
traction, hesitating to commit accumulate at one end where they form aninner
Also impotence can be permanent irreversible du cell mass; the result of this cellular migration is t
e to genetic disorder, diseases, hormonal he formation of the fluid filled cavitycalled basto
problems etc. coel.
.

Female sterility Male IMPLANTATION


 sterility
Failure to ovulate due to hormonal causes Is the process
Absence of spermwhereby
due tothe blastocyst
blockage of embades in
to thebetween
tubes uterine the
wall.
testes and seminal
As soon as the trophoblast is in contact with the
vesicles
Uterus damage, pregnancy cannot be uterine
Low sperm wall it starts secreting enzymesthat eat th
count
maintained (occurrence of miscarriage). rough the endometrium wall thereby pouring a w
ay for blastocyst
Damage to the oviduct due to tubal diseaseshence Production to embed.Trophoblast
of abnormal sperm. develop f
oviduct is blocked. inger like processes called trophoblast villi (chor
ion villi) which are fothe absorption
Cervix damage due to abortion or difficultbirth he Autoimmunity: Antibodies are made by of nutrients
from
nce inability to produce cervical mucusfor sperm t the malethebody
uterine
whichwall. The trophoblast
attract the sperm is also end
o reach the egg. ocrine insperm count.
reducing
Antibodies to sperm function as it secretes a human chorionic gonado
Impotence
trophs hormone (HCG).
Development of the zygote and embryo The function of the HCG is like that of LH.To m
This includes 5 stages: aintain the corpus luteum secretion of oestro
 Cleavage gen and progesterone also done.
 Blastulation Inhibit menstruation to pregnant woman.
 Gastrulating Forms the basis of the pregnancy test (urine – pr
 Neurilation egnancy test UPT) dip the litmus paperinto the
 Organogenesis urine if you see two red marks; the person is pre
gnant; if only one colour is seen
 CLEAVAGE then the person is not pregnant.

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The process of penetrating in the uterine wall co Ectoderm – Develops nervous system, sense org
ntinues until finally the blastocyst ans, epidermis the skin, hair nails and
becomes completely embeded in the glands and skin glands, neural egest.
blood vessels of the uterus. This is the Mesoderm – Develops into bones blood, muscle
actual act of implantation. s, dermis of the skin and reproduction system.
Endoderm – Develops digestive and respiratory
 GASTRULATION system and many glands.
This is transformation of blastula into germ layer
called gastrula.
It s a stage at which the embryo develops germ l Extra embryonic membranes and their roles
ayer. Extraembryonic membranes are membranous
During gastrulation, the cells on one side of the e structures that appear parallel to the embryo and
mbryo inviginates forming a small pore which play important roles in embryonic
called blastopore. development. They form from the embryo but do
The process ends when germ layers are ready for not become part of the individual organism after
med. its birth.
After implantation the embryo develops four me
NB: All the five stages are summarized in the di mbranes. They are called extra embryonic memb
agram below:­ ranes because
they are found outside the embryo and these incl
ude:­
i) Chorion
ii) Amnion.
iii) Allantos.
iv) York sac.

I. Chorion:This is the outer most membrane whi


ch is derived from the trophoblastic cells.It has v
illi that forms the part of the placenta, therefore t
he roles of chorion are;­
 To form parts of the placenta.
 To absorb nutrients from the mother to the
foetus means of villi.
 Since it is an outer member, it then protects
the foetus.

II. Amnion:This is the innermost membrane whi


ch lines the cavity surrounding the embryo.This
cavity (amniotic cavity) is filled with the amnioti
c fluid secreted by the amniotic cells.The amniot
ic fluid acts as shock absorber cushioning the em
bryo against mechanical andphysical shock.

III. Allantois:This is a sack like outgrowth whic


h develops from embryonic gut; it fuses with the
Through this pore, blastopore about half of the c chorion at­the point called allantois­chorion whe
ell from outside move to the inside and at re the placenta develops.The allantois is
this point, the embryo is said to turn on itself. the extraembryonic membrane whose function is
The result of this cellular migration is the develo to storeexcretions of the embryo.In placental
pment of two germ layers, the outer mammals, the allantois is present but it does not
(ectoderm) and the inner (endoderm). exert that function, since embryonic wastes are
The blastocoel becomes an archenteron the futur collected by the mother’s body through
e digestive tract. The blastopore is the futureanus the placenta.As the embryo continues to grow th
. e allantois develops into umbilical cord the tube
Finally the third layers the mesoderm form betw whichncarries blood vessels (embryonic) to end
een the ectoderm and endoderm forming a from the chorionic villi.The allantois is an
three layered embryo. adaptation to dry land because in embryos of
Gastrulation is important in placenta developme oviparous terrestrial organisms, such
nt because cell’s location in a particularlayer det as reptiles and birds, metabolicwastes cannot be
ermines its fate e.g. immediately excreted to aquatic surroundings

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(like fish and amphibian larvae do). Therefore, damage the delicate tissues of the developing foe
the appearance of a structure capable tus
of storing embryonic excretions until hatching If the two bloods were to mix, the foetal blood c
was necessary. ould be recognised as a foreign by maternal
blood. The maternal blood immune system could
IV. Yolk sac:The yolk sac is formed from the respond by killing the foetus.
covering of the vitellus by cells originating from This is because half of the genetic materials com
the primitive gut.The yolk sac stores vitellus, the e from the father and so the foetal cells arenot id
main entical to those of the mother.
source­of­nutrition­for non­placentalembryos.Th
is has got no obvious function in humans and oth  Progesterone.
er mammal it becomes buried in placenta.  ) Oestrogen.
In reptiles and birds the yolk sac is important as i  Human chorionic gonadotrophic hormone.
t absorbs food from the yolk and transfers it
to the midgut of the developing embryo.
Roles of placenta
 it allows the exchange of materials between
the foetus and the mother without mixing u
p the two blood.
 It is a means of passage of oxygen, water, a
cids, glucose (i.e. nutrients) to the foetus(ac
ts as intestine).
 Means of passage of carbondioxide, urea an
d other wastes from the foetus to the mothe
rso as to allow the excretion by the mother
and prevent harmful substances to accumul
ate
in the foetus i.e. acts as lungs and kidneys
 Allows certain antibodies to pass into the f
oetus providing it with some immunity
against diseases. This is called Natural pass
ive immunity.
 It protects the foetus by preventing certain
pathogens and their toxins from crossing th
eplacenta. Though, some manage to cross.
Placenta Eg. Treponema pallidum (for syphilis) and
A placenta begins when extension of chorionic v HIV.
illi penetrates more and more deeply  It prevents hormones and some chemical s
into the endometrium like the roots of a tree in th ubstances like alcohol to pass through the
e ‘soil’ uterus. foetus.
As they digest their way through the uterine bloo
d vessels the villi become surrounded
by pools of free blood the latter forms placental s
inuses.
A placenta is a linking structure between the foet NB:The placenta has an endocrine
us and the mother. It is the structure function, since it secretes the
that partly develops from the mother and parity d hormones, progesterone and estrogen,
evelops from the embryo. It thus has which maintain the endometrium (the
the foetal and maternal side. internal covering of the uterus) and
At the placenta, the materials are exchanged bet prevent menses during pregnancy. The
ween the foetus and the mother. placenta also secretes other
However, their vascular systems are not in physi important hormones for pregnancy
cal contact. The exchange of materials regulation.
is therefore by simple diffusion.

Why are the material and foetal blood not


allowed to mix?
Maternal blood is under relatively higher pressur
e compared to foetal blood; this could
Placenta serves as a link between foetus and
mother. At the same time it acts as a barrierb

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etween them. By reference to the functions of In this case two different ova from different ovar
placenta explain what those statements: ies are fertilized by two different
Placenta as a link spermatozoa
Placenta forming two different zygotes, whi
as a barrier
 O2 , H2O, food, salt from the mother to ch implant
Preventinblood
the uterus.
mixing.
the foetus. Each of
 CO2 and these twins develops
other in its own
nitrogenous placenta
wastes fro
 Partly antibodies from the mother to the and foetus
its owntoembryonic
mother. membranes
foetus. sincePrevent
they develop
high from differentblood
maternal zygotes. Then
affecting
 Filter out some hormones the zygotes are genetically different and
foetus directly.
 Partly filter out some pathogens not necessary of the same sex.

 BIRTH(PARTUIRITION)
Birth is a process whereby the fully developed fe
atures expelled out of the mother’s womb
after the gestation period is complete.
TWINS PUZZLE AND MULTIPLE BIRTH
Multiple birth and their causes: The process of birth/labour
Multiple birth are cases in which more than one The labour occurs in three stages shown by disti
baby are born from the same mother and nct events. These events are longer in
they result from the same pregnancy. primigravide than in multigravide.
In mammals like cats, rabbits, dogs and pigs mul The first stage
tiple birth are common cases as the This is the stage of labour pains. During this stag
ovulation several oocytes are released each of th e the fully developed foetus has its ownhypothal
em is fertilized by separate amus stimulated to release ACTRF which in turn
spermatozoan. stimulates the release of ACTH
Humans are commonly giving birth to only one from the foetal pituitary gland.
young individual. The ACTH stimulates foetal gland (adrenal) to r
elease cortical steroids. The released corticostero
Multiple birth occurs due to; ids pass across the placenta and enter the matern
1. More than one secondary oocyte being release al circulatory system where they
d at ovulation and then fertilized by perform the following:­
spermatozoa.  They cause increase in prostaglandins (secr
2. One ovum being fertilized by spermatozoan eted by uterus).
and zygote cleave into 2,3 …etc  They cause decrease in progesterone follow
ing the decrease in progesterone.
Twins: The pituitary gland is allowed to release oxytoci
Are two or more babies born from the same mot n.
her as a result of the same pregnancy. The inhibitory effect on myometrium contraction
types of twins: is removed and prostaglandins power
1. Identical twins the contraction.
Result from the same zygote/one zygote hence c Oxytocin therefore causes the contractions of the
alled monozygotic twins. For the myometrium where as the
development of identical twins to occur the zygo prostaglandins secreted by uterus increase the po
te cleaves into two or more wer of contraction. These contractions
blastomeres.These separate from one another an of myometrium sum up to labour pains.
d upon implantation each one of them develops i As the uterine walls continue to contract, the cer
nto an embryo. vix dilates under the influence of
In rare cases, separation of the blastomere fails a hormone called relaxin. The amnion and chorion
t some points. Thus leads to twins rupture releasing the amniotic fluid
remaining linked, such twins are referred to as si through the cervix breaking of water. Contractio
amese twins. ns continue from top to bottom forcing
The identical twins share the same placenta and t the baby out of the womb.
hey are in the same chorion and The body gets engaged into the pelvis and follo
amnion. wing further contraction, the foetal head
Since they develop from the same zygote such t gets into the cervix where it causes irritation and
wins are of the same genetic constitution increases powers of contraction.
and of the same sex. The first stage of labour is terminated .When the
2. Flatenal/Non identical twins diameter of the head is equal to the diameter
They develop from two different zygotes hence t of the cervix.
hey are called dyzyotic twins.
The second stage

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Is the stage where by the baby is completely deli order to depend on,themselves and to learn to liv
vered out of the mother’s womb. e actively in the social unit.
As soon as the baby is out, the umbilical cord is l
igatured at two points and a cut is madebetween Parental care involves the:­
the two ligatures so as to make the baby totally s 1. Learning of language.
eparated from the mother’s 2. Teaching the language.
physiological reliance. 3. Formal education (For human beings, primary,
secondary up to tertiary education)
The third stage thereafter a person becomes independent.
This is the stage during which the placenta and t
he extra embryonic membranes after birth is REPRODUCTIVE CYCLES
delivered. In order to syncronise the favourable conditions t
The birth of after birth is due to dramatic contrac o sexual reproduction, sexual reproduction
tion of the uterus which causes the placenta is naturally in cycle.
to detach from the uterine wall. In mature female mammals, there is a sexual rep
It is important that after birth is not allowed to re roduction cycle, this is known as oestrus
main inside for a long time as its cycle (ovarian cycle).
decomposition leads to blood passing. At the onset of puberty there are approximately
400,000 primordial follicles and single­follicles i
 PARENTAL CARE n all stages of maturity in the ovary. Ooctyes con
This comprises of all activities the parents do for tained in the primordial follicles,migrate out of t
the better growth and bringing of their he extragenital,structures of the coelomate epithe
offspring or the offspring of the near relative. lium into the stroma of the primary bipotent gon
alds as,oogonia during embryonic development.
Aspects of parental care: These then divide mitotically of the roughly 400,
 Nutrition ­3 months :The body has to be fe 000 follicles that are present in the two,ovaries at
d on the nutritious food substances, for pro the beginning of sexual maturity, only around 4
per growth and,,,,development. After birth, 80 reach the graafian follicle stage
the baby is fed on breast with from its moth and are thus able to release oocytes (ovulation).
er…Breast feeding is highly recommended This number is simply derived by multiplying th
because mother’s milk contains all importa e number of oocytes of cycles per year(12) and t
nt food­substances needed by the baby at e he number of years in which a woman is fertile (
very stage of its development.­The first mil 40).
k that a baby is sucking from the mother’s Cyclic ovarian functions entailing follicle format
breasts is a special one as it is called ion, ovulation, corpus luteum
colustrum. development and luteolysis is regulated by the h
This is a yellowish fluid that contains antib ypothalamus pituitary system as well as by­intra
odies to provide immunity to the baby.Afte ovarian mechanisms, hypothalamus, pituitary an
r first three months, the child continues to b d ovary are there by in dynamic interaction.
e supplied with extra proteinous food subst
ances,,such as cow’s milk,,eggs, fish, beef OESTRUS CYCL:
etc. for proper growth and development. Oestrus cycle is the total time taken for the devel
opment and degeneration of an ovarian follicle.
In some mammals, this period occurs once in a y
 Protection: ear, they are said to be monoestrus eg.fox.
Most of the mammalian parents protect their you
ng against NB.menstrual cycle in human, oestrus cycle in ot
 Disease: by providing health services ensur her mammal.
ing hygienic handing of food etc. The discharge of the blood marks the end of oest
 Climate changes: by providing warmth to t rus cycle in higher mammals of order
he babies. primate.­In most mammals, this period is occurri
 Predators/enemies: mothers become agressi ng many times in a year, so they are polyestrus.
ve to ensure that their young ones are
not reached.

 Social interaction/Education:The youn Phases of oestrus cycle(very minor)


g ones must learn how to interact withothers and  Anoestrus – Period during which no visibl
fit into the social structure,,around them. The yo e sexual activity in females.
ungs need early experience with their parents in

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 Proestrus – Period during which graafian f  Cycle begins again.


ollicle develops into ovary and secreteoestr
ogens. Also called follicular phase.
 Oestrus (heat) – Ovulation normally occur
s, the female is ready to mate and becomes
sexually attractive to male.
 Met oestrus (luteal phase) – corpus luteu
m develops from raptured follicle.
 Dioestrus – Progesterone secreted by corpu
s luteum prepares uterus for implantation.

Significance of oestrus cycle:


Since it is characterised by ovulation and hence i
ncrease sexual urge of female, then it is
important in that copulation is syncronised with f
ertilisation.

MENSTRUAL CYCLE
This approximately monthly cycle of events asso
ciated with ovulation that replaces the
oestrus cycle in most primates i.e. human chimp
anzee, gorilla, baboon etc.
The lining of the uterus becomes progressively t
hicken with more blood vessels in
preparation for implantation of a fertilized egg (b
lastocyst).
Ovulation occurs during the middle of the cycle
(fertile period). If fertilization does not
occur the uterine lining breaks down and dischar The figure above shows morphological and end
ged is known as period. ocrinological changes during various phasesof
In women the fertile period is 11 – 15 days after the cycle.
the end of the last menstruation.
Phases of menstrual cycle
Events of menstrual cycle/oestrus cycle
 Day 1 and 2 anterior pituitary gland release  Follicular phase:This is characterised by:­
s. FSH and LH. Increased TSH from pituitary gland;
 These hormones travel by blood and reach t Production of LH from pituitary gland and
he ovary. Development of follicle.
 They stimulate the granulosa cells to secret  Ovulation:This involves the release of seco
e oestrogen. ndary oocyte after maturation of graafian fo
 Oestrogen thickens endometrium and inhibi llicle. This­process in controlled by LH. On
ts FSH and LH. e follicle rapidly out places the others and a
 Day 12 LH level rises. ttains a diameter­of up to 2.5 cm. This folli
 It stimulates granulosa cells to stop produci cle is called mature vesicular (graafian folli
ng oestrogen and start release progesterone. cle).It is produced from the surface of the o
 Causes ovulation. vary like a bluster. As it develops the prima
 At day 14, secondary oocyte bursts out of t ry­oocyte completes meiosis I producing a
he ovary. secondary oocyte. This begins meiosis II.
 Granulosa cells filled with yellow substanc  Luteal phase:Development of corpus luteu
e to form corpus luteum. m following ovulation; the rapture of graafi
 luteum secretes progesterone. an follicles develops­into a yellow body ma
 Endometrium thickens. ss called corpus luteum. The latter is endoc
 Inhibits FSH and LH. rine in function and thus it­secretes two hor
 Drop in FSH and LH stops progesterone an mones. Progesterone (large amount) and oe
d oestrogen level going up because granulo strogen (small amount).
sa re no longer stimulated.  Menstruation:This is characterised by with
 Endometrium no longer thickens and lack o drawal of progesterone following the regres
f progesterone and oestrogen stimulate the sion of corpus
anterior pituitary gland to release FSH and luteum also discharge of blood from vagina
LH. .

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Events of menstrual cylcle


The events of menstrual cycle involves:­
1. Ovarian cycle – ovaries.
2. Uterine cycle – uterus.

In women, the rythmic hormonal influence lea


ds to the following cyclic events.
1. The ovarian cycle (follicle maturation) that pe
aks in the ovulation and the subsequent
luteinization of the granulosa cells.
2. Cyclic alternation of the endemetrium that pre
pare the uterine mucosa to fertilized
oocyte (as ‘nest’ thene).

The ovarian cycle


A rule, the ovarian cycle lasts 28 days (in majori
ty). It is divided into two phases:

Follicle phase: Requirement of a so called follicl


e and within this selection of the Fg: Interaction between hypothalamus pituitar
mature follicle. This phase ends with ovulation. y gland and ovary representation of ­ve and
Oestrogen (estradiol) is the steering +ve feedback mechanisms.
hormone normally it last 14 days
but this varies considerably.  The follicle grows rapidly and secretes incr
easing amount of oestrogen.
Luteal phase: Progesterone production by corpus  This hormone oestrogen causes the uterine
luteum.The control circuit of the hormonal cycl lining to become thicker and more heavily­
e has two essential elements:­ supplied with blood.On about the 14 day o
 The pulsative liberation of GnRH as well as f a 28 days cycle the pituitary gland secrete
FSH and LH. s a large pulse of LH­and additional FSH a
 The long – loop feedback effect of oestroge nd these trigger the oocyte to complete the
n and progesterone on thehypothalamic hyp first meiotic division it began before birth.
ophysical system.  The developing follicle then rapture and rel
eases the egg.
Hormonal control of egg production and uterin  Once the ovum has left the ovary and begin
e preparation s its trek down the oviduct, the follicular­ce
 When levels of progesterone and oestrogen lls left behind in the ovary enlarge and for
in the blood are low, the hypothalamus is m a new gland the corpus luteum (literally
triggered to secrete releasing hormones (Gn yellow body).
RH).  The corpus luteum cells continue to secrete
 The releasing hormone stimulates the pituit oestrogen but they begin now for the
ary gland to produce FSH and LH which production of large quantities of progestero
travel in the blood stream to the ovary. ne as well.
 The FSH stimulates follicles to grow but us  Together oestrogen and progesterone prom
ually only one follicle with its oocyte matur ote the continual build up of the uterine
e each month. lining.
 The hormones as well inhibit the hypothala
mus from making releasing factors and the
pituitary from releasing FSH and LH.
 If the ovum does not encounter sperm on it
s down ward journey and it is therefore not­
fertilized diminishing levels of LH and FS
H allows the corpus luteum to degenerate o
n day 24 of a cycle.
 Corpus luteum thus releases less and less o
estrogen and progesterone.
 As these hormones diminish; the endometri
um begins to slough off and an
approximately five days long period of men

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strual flow starts making the beginning of just­after birth, but ovulation does not take place
the next cycle. until much late

The control of the circuit of the hormonal c In any case the final production and delivery of t
ycle: he fully competent eggs or sperm require­compl
The control begins in the hypothalamus which pr ex hormonal stimulation that occurs in adult, afte
oduces gonadotrophin releasing r the reproductive organs are fully mature.
hormone.The GnRH is received by receptors in t If fertilization does not occur, corpus luteum reg
he anterior pituitary gland which responds by­rel resses leaving a scarred area called
easing follicle stimulating hormone (FSH) and lu corpus luteum albicans (white body). This leads
tenizing hormone (LH) in a pulsatile­manner.­At to subsequent decrease in the level of
the beginning of the development, the granulosa progesterone.
cells express FSH receptors which­stimulate gro As this happens, FSH is no longer inhibited and t
wth of the follicle. Theca cells express receptor f herefore its level increases in the blood.
or LH which stimulates­the growth of corpus lut This marks the beginning of ovarian cycle
eum.­Theca cells also produce andogens which t
he granulosa cells convert into oestrogen­Oestro Uterine cycle
gen acts back on the anterio­ pituitary gland to fu Is a repeating series of changes in the structure
rther FSH and LH surges, and­also supports the of uterus.It takes 21 – 35 days. It is divided into:
growth of the endometrium.­At some point the d ­
ominate follicles begins to secrete inhibin, which 1. Menses
acts back on­anterior pituitary gland to stop pro 2. Proliferation phase.
ducing FSH. Only the dominant follicle which is 3. Secretory phase.
now FSH independent will continue to grow. 4. The Menstrual phase (menses)
During further growth/development; the granulo This involves the shading of the epithelial lining
sa cells increase their FSH receptors and­express of the endometrium. This phase and thenprocess
LH while the theca cells increase LH receptors.­ associated with it are explained as follows;­Follo
This surge in hormone receptor results in ovulati wing the regression of t­e corpus luteum, the lev
on.­After ovulation, if fertilization occurs; the co el of progesterone in the blood­decrease. This le
rpus secretes progesterone that supports the­furth ads to the construction of spiral arteries that supp
er growth of endometrium. If, however fertilizati ly oxygen to the endometrium thus receive
on does not occur, then the­hormone level drops small amount of oxygen and consequently die.­B
the­corpus luteum breaks down, no longer secret y negative feedback, the spiral arteries then dilat
e progesterone, so that the endometrium­sloughs es allowing more blood to flow
off producing menstruation. towards the dead cells in the uterine walls.
It is estimated that lens than 1% of all follicles re
ach the stage of the graafian follicle The pressure exerted by the blood causes the wal
with 99% of follicles degenerating by apoptosis l to disintegrate and flow out together­with varia
programmed cells death is an energy ble amount of blood in the menstrual flow. Usual
dependent process ly endometrium sloughts out in patches.
accompanied by DNA degeneration. 5. Proliferation phase (Proliferative phase)
The corpus luteum develops out of the raptured f Involves the rapid proliferation multiplication of
ollicle immediately following ovulation­corpus l the endometrium under the influence of
uteum is a vascularized version of the previous a oestrogen from developing follicle.
vascular follicular epithelium­with its intergrati 6. Secretory phase
on into the­circulatory system and the expression During this phase, progesterone from corpus lute
of the low density lipoprotein receptors, the­foll um gland and this maintains the lining
icular epithelial cells are able to take up choleste of the uterus in receptive state for implantation o
rol from the periphery and use it for f the zygote.
progesterone biosynthesis.
NOTE:– Humans unlike some other species have
once obvious external signs to signal
NB: receptivity at ovulation (concealed ovulation).
The origin of germ cells (gametes) is of special i Research has shown however, that women tend t
nterest because the differentiation of these­cells i o have more sexual thoughts and are
s responsible for continuing life cycle. The initia most prone to sexual activity right before ovulati
l determination of cells as premordial­germ cells on.
occurs very­early in mammals, where all of the
meiotic and differentiation into oocytes before or SIMILARITIES BETWEEN OESTRUS AND
MENSTRUAL CYCLE

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 Both comprises of recurring physiological c


hanges that are induced by reproductive
hormones in most mammalian placental fe
males.
 Both start after puberty in sexually mature f
emales and are interrupted by oestrus phase
s, continue until menopause.

METAMORPHOSIS
Metamorphosis is the change of form of an orga
nism in the course of its development.
Metamorphosis is caused by hormones from the
brain and three other endocrine
structures two of which are the corpus allatum a
nd corpus cardiacum which are
extensions of the brain.

1. Brain
This has neuro – secretory cells for secretion of t
he brain hormone (BH); This influences
the secretion of ecdysone (a hormone controlling
ecdysis) hormone from the pro­
thoracic glands. The ecdysone
hormone is stored in the thoracic gland.
2. Corpus allatum
This is an extension of the brain which secretes j
uvenile hormone (JH). This JH is
dominant during the larval stage controls growth
and moulting.
3. Corpus cardiacum
It is also extension of the brain which basically r
eceives brain hormone from the neuro­secretory
cells of the brain, stores it before pouring it out.
4. Prothoracic gland
It secretes a prothoracic gland hormone (PGH) o
r ecdysone hormone. This is secreted
when JH diminishes and it controls the process o
f population and emergency of an adult
from the pupa. It is also controlling ecdysis.

Types of metarmorphosis
1. Complete (holometabolous) metamorphosis
Type of metamorphosis in which four stages are
involved.
Example: – Housefly, butterfly.
Fig: life cycle of a butterfl

The embryo of an insect (for example a moth but


terfly, beetle or fly) which undergo
complete metamorphosis develops into a young f
orm called a larva which appears verydifferent fr
om the adult.
Larvae lack many of the structures of the adult.­
Butterfly larva has no wings and lacks compoun
d eyes and jointed legs. They have­become little
more than feeding machines whose primary func
tion is to find and consume food.

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Once it has reached a certain size, the lava stops


feeding and becomes a pupa by Advantages of metamorphosis
enclosing itself in the protean case within the cas 1. Metamorphosis enables juvenile and adult for
e tissues are broken down and ms to live different habitats and exploit
recognised so that they undergo a­remarkable tra different resources. This reduces competition bet
nsformation to the adult form, the imago.­Once t ween the different developmental
he adult has emerged from the case with fully de stages.
veloped wings, it can no longer 2. Metamorphosis allows the larva and adult stag
moult. This restricts growth. es to become highly specialized for
particular functions; usually the larval stage is sp
Incomplete (hemimetabolous) metamophorsis ecially adapted for feeding and the
Is the type of metamorphosis in which an insect adult for reproduction.
develops through three stages.
Example:­ grasshopper, cockroach or locust und REPRODUCTION IN FLOWERING PLANTS
ergo incomplete metamorphosis. The reproductive structure of the flowering plant
The embryo of an insect such as grasshopper, co is the flower.
croach or locust undergo incomplete Flower structure
metamorphosis. Sexual reproduction in ᕌ owering plants centres
around the ᕌ ower. Within a ᕌ ower, there are
usually structures that produce both male
gametes and female gametes.

GAMETOGENESIS IN FLOWERING PLANT


S
As in animals, gametogenesis in flowering plant
s is the formation of gametes
producing cells, the microspores s and the megas
It develops into a nymph which closely resemble
pores. The process whereby the microsporesare
s the adult form but which has a
produced is called Microsporogenesis where as
number of adaptive features which enables it to l
megaspores are produced during
ive in different habitat and eat differentgood fro
megasporogenesis. The former forms pollen emb
m the adult.­In order to grow the nymph moult s
ryo female gamete.
everal times and go through a number of­develo
pmental stages called instars. The instar emerges
Developmet of pollen grains: microsporogenesi
as the adult with all the adult organs.
s:

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This occurs in the pollen sacs of the others, in th MEGASPOROGENESIS


ese sacs each pollen or mother cell This is the development of the embryo sac (meg
(2n) undergoes meiosis I to produce two haploid aspore). The process takes place in the ovule
cells. Each of the resulting daughter cells­underg of the ovary.Inside the ovary there may develop
oes meiosis II to produce a total of four haploid one or more ovules. Each ovule begins life as a
cells the four cells separate and each­cell develo small projection into the cavity of the ovary. As
ps a thick wall over it. This wall is called an exin it grows and develops it begins to bend but
e inside which lies an intine. The remains attached to the ovary wall by a placenta.
pollen grain at this stage is equivalent to the micr At the start, the ovule is a group of similar cells
ospore. called the nucellus. As it develops, the mass of
Its nucleus divides by mitosis to produce two nu cells differentiates to form an inner and an outer
cleus the generation nucleus and integument, surrounding and protecting the
the pollen tube nucleus nucellus within, but leaving a small opening
called the micropyle.
Sexual reproduction in plant At the centre of the ovule is an embryo sac
Sexual reproduction in angiosperms occurs in th containing the haploid egg cell (the female
e gametophyte generation. The structure for­sex gamete).
ual reproduction is the flower.­It is within the flo
wer where spore and gametes are developed. Mechanism
The megaspore mother cell (2n) undergo meiosis
GAMETOGENESIS to produce two cells (n) but only one­continues t
Occurs in two ways:­ o develop under the influence of nutrients from n
 Microsporogenesis. ucleus and become the embryo­sac.­The nucleus
 megasporogenesis. of the embryo sac divides mitotically three times
to produce 8 nuclei the­antipodals migrate, pola
 MICROSPOROGENESIS r nuclei remain at the centre and 3 nuclei the fem
Is the process by which mature plant produces m ale gamete and­sinergid migrate to the microphy
ale gametes (pollen grains or microspores) len end.­Soon after mitosis the embryo sac and it
at anthers of a flower.The process takes place in s content is referred to as the female­gametophyt
the lobes of the anther. e because one of the nuclei is the female gamete.
Development of embryo sac and female gamete.
Mechanism:­
The microspore mother cell pollen mother cell 2
n also called primary microsporocyte,
undergo meiosis I to produce two haploid cells (
dyad).The products of meiosis I undergo meiosis
II producing 4 cells (tetrad). The cells in the tetr
ad
get separated from one another and cell (microsp
ore pollen grain) secretes an additional wall­over
the present wall.­The nucleus of the pollen grain
divides mitotically to produce two nuclei, the po
llen tube, nucleus and the generative nucleus.
At this point the pollen grain and its contents if r
eferred to as the male gametophyte
because the male gametes will develop from the
generated nucleus.
The mature pollen grain has two walls; the inner
(intine) and the outer (exine).
Exine has various pits (Sculptures)

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light,smooth pollen grains. sculptured w


and to stigma
POLLINATION Anthers Move freely, so pollen is easily Fixed to fila
Many plants favour cross­pollination, so pollen dispersed into contact w
must be transferred to the stigma of another Stigma Large often branched and feathery, Small inclos
plant if sexual reproduction is to take place. hanging outside the flower to trap to come into
Some flowers rely of the wind to carry pollen pollen
grains others rely on insects.
Self­pollination is where the pollen is transferred FERTILISATION
to the stigmas of the same flower or the stigma If the pollen grain lands on a compatible stigma,
of another flower on the same plant. a pollen tube will grow so that eventually the
Self­pollination is obviously more reliable, egg cell, hidden away in the embryo sac, can be
particularly if the nearest plant is not very close. fertilised. A tube emerges from the grain, its
A potential drawback is that both gametes come growth being controlled by the tube nucleus at
from the same parent. If the plant is well adapted the tip of the tube. It may grow downwards in
to a stable environment, the production of growth being controlled by the tube nucleus at
uniform of spring may be advantageous. the tip of the tube. It may grow downwards in
However, inbreeding will result and if there are response to chemicals made by the ovary (a
disadvantageous recessive characteristics in the response known as chemotropism).
parent, they are much more likely to be exposed During the growth and extension of the tube, the
than if the plant cross­pollinates. generative nucleus, behind the tube
Cross­pollination is less reliable and more nucleus, divides by mitosis to produce 2 male
wasteful than self­pollination, but it is haploid gametes. The pollen tube enters the
genetically favourable because genes are ovule through the micropyle and penetrates the
transferred and variation increases. embryo sac wall. The tip of the tube bursts open,
the tube nucleus dies and what follows is called
Strategies to favour cross pollination: double
Dioecious plants: Some plants have flowers that fertilisation.Double fertilization is a type of ferti
are only male ­ they have only stamen. Other lization which occurs in the flowering plantwher
plants of the same species have flowers that are e the two types of nuclear fusion take place.
only female ­ they have only carpels. One male gamete fuses with the egg cell to
Monoecious plants: Some flowers on a plant are produce a diploid zygote.
only male; other flowers on the same Another male gamete fuses with both the polar
plant are only female. So, self pollination is nuclei to produce the triploid primary endosperm
avoided by a difference in the timing of their nucleus.
development. Immediately after fertilisation, the ovule is
Protandry: Anthers on some plants mature frist. known as the seed.
Pollination of immature stigma on the same
plant is therefore not possible.
Protogyny: The stigmas mature frist.
Self­incompatibility: Pollination can occur but
the pollen tube doesn't grow well, if at all,so no
fertilisation takes place.

For those plants that cross­pollinate, some are


wind pollinated, others are insect
pollinated. Here are some of the differences:

Feature: Wind pollinated ?owers


Petals: Small inconspicous, sometimes
absent. If present, not brightly
coloured
Scent None.
Nectary Absent
Pollen: Produced in large quantities,

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fruit.The function of the fruit is to protect the


seeds and to aid in their dispersal, e.g. by an
animal. That is why they can be brightly
coloured and sweet; animals will eat them and
scatter the seeds either at the time of eating or
when they are passed out of the gut in defecation,
unharmed.

The following happens: GENETICS


1. The zygote divides many times by mitosis to
produce an embryo. It differentiates to become a Genetics is the study of heredity and variation.
plumule (young shoot), radicle (young root) and Heredity­ is the passage of character from one ge
either 1 or 2 cotyledons (seed leaves). It is neration to another.
attached to the wall of the embryo sac by a Variation ­these are differences among individua
suspensor. ls of the same species.
2. The primary endosperm nucleus divides many
times by mitosis to produce endosperm tissue. In GENETICS & VARIATION
some seeds this endosperm is a food store for HEREDITARY MATERIALS:­
later use by the seed. In others it may gradually Hereditary or genetic materials are chemical sub
disappear as the cotyledons develop. stances or units on the chromosome that are­res
3. To accommodate all this growth the embryo ponsible for the passage of genetic information f
sac expands and the nucellus is crushed out of rom one generation to another.
existence, giving its nutrients to the embryo and
endosperm. Characteristics of hereditary materials:­
4. The integuments surrounding the embryo sac The features that characterize hereditary material
become the tough and protective testa s include the following:­
(seed coat). The micropyle remains though so 1. Metabolic stability. Hereditary materials are
that oxygen and water can be taken in at metabolically very stable or chemically inert.
germination. If it were altered to any extent, impercfect copies
5. The water content of the seed decreases would be made.
drastically so the seed is prepared for dormancy. 2. Mutation: There is a close correlation between
6. The ovary wall becomes the pericarp ­ the hereditary materials and mutation agents­that is,
fruit wall, the whole ovary now being the

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when the hereditary materials are exposed to mu Macromolecules


tagens undergo mutations  They are universal but restricted within spe
3. Self replication:Hereditary materials are capa cies.
ble of reproducing themselves.  All are made due to phosphoric acid.
4. Constancy within the cell:The amount of here  All are comprised of pentose sugar, nitroge
ditary materials remains constant within a n base and phosphate.
cell or in the cells of organisms of the same spec
ies. Chromosomes and their structure
5. Carriage of information:The hereditary materi Chromosomes carry the hereditary – material D
als are capable of carrying genetic NA. In addition they are made up of
information from one generation to another. protein and RNA. Individual chromosomes are n
6. Linearity:The information or the genetic mater ot visible in a non – dividing (resting)but the chr
ials if always arranged in a linear omosomal material can be seen especially if stai
array.They are macromolecules . ned. This material called
Chromosomes become visible only during onset
SPECIES CONCEPT: of cell division.
There are several ways if defining what a species
is:­ Each chromosome is seen to consist of two threa
(a) According to genetics: A species is defined a ds called chromatids joined to point
s a group of organisms that share a called centromere. Chromosomes vary in shape a
common gene pool and have the same number of nd size both with and between species.Homolog
chromosomes. Gene pool is the total of all ous chromosomes are similar in structure.­Arran
genetical make up in a given population. gement of homologous chromosomes in pair is k
(b) According to ecology: A species is defined as nown as Karyograi and the set of­chromosomes
a group of organisms that share a common is known as Karyotype.
ecological niche no two species can share the sa Structure of chromosome:­
me genetic niche.
(c) According to plant and animal breeding: A s
pecies is a group of organisms as that can
freely interbreed and produce fertile offspring.

Qn;­How does a breeder define a species?


By the above definition is a horse and donkey o
f the same species? Give reasons
Answer:
According to definition of species given by a bre
eder as horse and a donkey are of different­speci
es. This is because although they interbreed freel
y producing a mule but a mule is non –fertile an
d therefore it cannot produce another mule.

Qn:­In a certain research programme at Kwam


sisi Rodent research centre, cage of 159 rats­fr
om Usambara mountains and a cage of 162 rat THE NUCLEIC AIDS, TYPES OF HEREDIT
s from Pugu forest; reserve were researched.If ARY MATERIALS
you were one of the researchers how would you There are two types of nucleic acids:­
identify those rats of the same species? (a) Ribonucleic acid, RNA.
Answer: (b) Deoxyribonucleic acid, DNA.
To identify those of same species the following s
hould be done:­ Chemical nature of nucleic acids:­
(a) To allow interbreeding:Those rats of the sam Chemically nucleic acids are composed of the fo
e species will interbreed freely and produce fertil llowing:­
e offspring.Those rats of different species will ei 1. Pentose sugar – This is a five carbon sugar.
ther fail to interbreed or if the will inter breed th In RNA, there is ribose sugar where as in DNA,
e product so produced will be non – fertile. there is deoxyribose sugar
(b) Chromosomes analysis:Those rats of the sam 2.Nitrogenous (organic) base:There are two gro
e species will have the same number of chromos ups of organic bases:
ome.  Purine bases­These include:adenine (A)
and guanine (G)
EXTRA OF HEREDITARY MATERIALS

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 Pyrimidine bases­These include Thymine(T)  Purines – These are Adenine (A) and Guan
, Cytosine © and Uracil (U) ine (G).
NB:Thymine is a DNA pyrimidine while Uracil i  Pyrimidines – These are Uracil (U) and Cyt
s an RNA pyrimidine. No uracil in DNA nor is osine.
there thymine in RNA  Chemical bonds: These are of two types:­
3. Phosphate group:­  Phosphodiester bonds – Which hold the nu
This is derived from phosphoric acid and it is thi cleotides together.
s group that makes compounds (DNA and  Hydrogen bonds – Which hold together the
RNA) acidic in nature. complementary base parts in tRNA
The three components are combined by condens molecule.
ation reactions to give a nucleotide. By a­similar
condensation reaction a dinucleotide is formed a
nd continued condensation reaction­leads to the­
formation of a polypeptide.The main function of Diagram to show structure of RNA:
nucleotides is the formation of nucleic­materials
RNA and DNA which have vital roles in protein
synthesis and heredity.

Structure of a typical nucleotide:­

1. Chemical bonds:­There are two types of chem


ical bonds:­
 Phosphodiester bonds – These hold the nuc
leotides together.
 Hydrogen bonds – These hold together the
complementary base pair in DNA as well a
s RNA.
2.Protein cost:­The DNA of the eukaryotes has a
history protein coat over its surface.

RIBONUCLEIC ACID (RNA)


Role of RNA.
Chemical nature: The role of RNA is situational:­
Ribonucleic acid is chemically composed of the
following substances:­ 1. In the presence of DNA, RNA in collaboratio
 Pentose sugar – This is a 5 carbon sugar ca n with DNA.
lled ribose.  Controls heredity.
 Phosphate group– derived from phosphori  Controls protein synthesis.
c acid
 Organic (nitrogenous) bases – These are 2. In the absence of DNA, RNA alone.
of two types.  Controls heredity.
 Controls protein synthesis.

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Types of RNA Base pairing rules:­


According to function and location in the cells, t Since DNA is double stranded molecule, the bas
here are three types of RNA:­ es on the two strands appear in pairs
(a) Messenger RNA (mRNA).This is the type being held together by the hydrogen bonds.The s
of RNA formed from one of the strands of DNA trands run in opposite directions, that is are Anti
in the process called transcription. parallel.The base pairing rules make the chains,
Role of mRNA:­ Complementary.
Messenger RNA carries the genetic code from D
NA in the nucleus to the ribosome According to Watson – Crick modal of DNA stru
in the cytoplasm. This genetic code contains the cture, a purine pairs with a pyrimidine.
information about the types of­amino acids that s The rules are that:
hould be joined together to form a protein molec (a) Adenine pairs with thymine and the two base
ule. s are held together by two hydrogen
(b) Ribosomal RNA (rRNA). bonds.
Ribosomal RNA (rRNA) or soluble RNA constit (b) Cytosine pairs with guanine and the two base
utes about 80% of the total RNA in s are held together by three hydrogen
the cell.­Ribosomal RNA is synthesized by a spe bonds.
cial DNA found in the nucleolus at a special  Phosphate group – dividend from phospho
region called a nucleolar organizer.It makes a bu ric acid.
lk of the ribosome.  Protein – Over the surface of DNA, there i
Role of rRNA s a histone protein coat.
 It is an integral part of the ribosome i.e larg  Chemical bonds – There are two types of c
e proportion of the ribosome is madeup on hemical bonds.
rRNA. Phosphodiester bonds – These hold the nucle
 It attracts other types of RNA i.e mRNA an otides together.
d tRNA towards the ribosome duringprotei Hydrogen bonds – These hold the compleme
n synthesis. ntary base parts together.
(c) Transfer RNA (tRNA
This constitutes about 15% of the total RNA in t
he cell.
Structurally, tRNA is a clover – lead shaped mol
ecule with a folded loop – like chain.
The looping of the chain, results into pairing of t
he folded of organic bases. Hence the
formation of hydrogen bonds.The molecule has
got four active / recognition sites.
The upper site recognizes an amino acid, where
as the lower side (Anticodon)
recognizes the mRNA. One of the sides recogniz
es the ribosome where as the other one
recognizes in enzymes, amino – acyl tRNA synt
hetase.
Role of tRNA
The role of tRNA is to carry the activated amino
acids from various parts of the
cytoplasm to their binding site, the ribosome.

DEOXYRIBONUCLEIC ACID (DNA)


Chemical nature:­
DNA is chemically composed of the following s
ubstances:
 Deoxyribose sugar– This is a pentose (5 –
carbon) sugar.
 Organic or nitrogenous bases – These are
of two categories.
Purine bases – These are Adenine (A) and
Guanine (G)
Pyrimidine bases – These are Cytosine (C)
and Thymine (T).

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chromosomes. It was suspected that protein mig


ht be the only molecule with staff verify
of structures to act as genetic material.
Evidence from bacteria:
In the days before development of antibiotics pne
umonia was often a fatal disease. It
was intended in developing a vaccine against the
bacterium Pneumococcus which was
one form of pneumonia.
Two forms of pneumococcus where known, one c
overed with a gelalinious capsule one­violent (di
sease producing) and the other non – capsulated
and non – violent. The
capsule protected the bacterium in some way fro
m attack by immune system of the host.­Griffith h
oped that by injecting the patients with either the
non – capsulated the heat –killed capsulated for
ms, their bodies would produce antibodies which
would give
protection against pneumonia. In a series of exp
eriments he injected with both forms of­pneumoc
occus and obtained the results shown in a table
below. The dead mice revealed­the presence of li
ve capsulated forms their bodies. On the basis of
these results Griffith­concluded that something
must be passing from the heat – killed capsulate
d forms to the­live non – capsulated forms which
caused them to develop capsule and become vir
ulent.However the nature of this transforming pr
inciple, as it was known was not isolated andide
ntified until 1994.
Results of Griffth’s experiments:
Injected form of pneumococcus Effect
Live non – capsulated Mice live
Live capsulated Mice live
Role of DNA in protein synthesis.
Heat – killed capsulated Mice live
This role of DNA is that, it instructs the cell of t
he types of amino acid that should be Heat – killed capsulated Mice live
initiated to form a protein molecule. That is the Heat – killed capsulated + live non capsulated Mice live
message contains the information about­the type
s of amino acids that should be joined up formin Later on analysis on the constituent molecule of
g the protein molecules heat – killed capsulated pneumococcal cells­and
testing their ability to bring about transformation
Qn:­One of the characteristics of DNA as a her in live non – capsulated cells. Removal­of the p
editary material; is that it is metabolically­very olysaccharide capsule and the protein much from
stable. State the features of DNA that account f the cell extracts had no effect on the­transformat
or this metabolic stabilit ion, but the addition of the enzyme deoxyribonu
Answer;­ clease (DNase), which hydrolyses­(break down)
The features of DNA account for this metabolic DNA prevented transformation. Hence, demostr
stability include the following:­ ation of the Griffth
(a) Possession of a histone protein coat transforming principle basing on the fact of DN
(b) The helical nature, increases mechanical stre A
ngth. Evidence from viruses:­
(c) The chemical bonds i.e hydrogen and phosph Experiment on bacteriophage which attacks the
odiester bonds, increase mechanic bacterium, it concluded that DNA physical
strength. and not the protein which is the hereditary mater
ials.
Evidence for the role of DNA in inheritance
It took many years to clarify whether genetic ma DNA REPLICATION
terial was the DNA or the protein the

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DNA replication is a process whereby the exact


copies of DNA (replicable) are produced by  Enzymes known as DNA polymerases are
the old DNA molecules. responsible creating the new strand by a
process called elongation. There are five
Significance of DNA replication:­ different known types of DNA polymerases
(i) Since it occurs prior to the nuclear division, D in bacteria and human cells. In bacteria
NA replication ensures that all newly such as E. coli, polymerase III is the main
formed cells have the same amount of DNA. replication enzyme, while polymerase I, II,
(ii) It ensures sameness and constancy of heredit IV and V are­responsible for error checking
ary materials of the cells. and repair. DNA polymerase III binds to
(iii) Occasional mistakes during DNA replicatio the strand at the site of the primer and
n, results into genetic variations hence begins adding new base pairs
evolution. complementary
(iv) If evidence mistake attracts uracil instead of to­the­strand­during­replication. DNA poly
thymine. RNA is constructed not DNA. This merase then move along the strand resultin
occurs when the enzyme fails to recognize the m g formation of complementary­bases and h
ethyl group of uracil. ence a free nucleotide and finally extending
new stand of DNA.Because replication
proceeds in the 5' to 3' direction on the
leading strand, the newly formed strand is
continuous.The lagging strand begins
Mechanism of DNA replication:­ replication by binding with multiple
 The two strands of a DNA unwind and sepa primers. Each primer is only several bases
rating thus acting as temperature to which a apart. DNA polymerase then adds pieces of
­complementary set of nucleotides would at DNA, called Okazaki fragments, to the
tach by base pairing. In this way each origi strand between primers. This process of
nal­molecule of DNA give rise­to two copi replication is discontinuous as the newly
es with identical structures. In the presence created fragments are disjointed.
of ATP an enzyme DNA polymerase­links
free DNA to form complementary bases.Th  Once both the continuous and
e unwinding of DNA, double helix is discontinuous strands are formed, an
controlled by the enzyme helicase DNA enzyme called exonuclease removes all
helicase disrupts the hydrogen RNA primers from the original strands.
bonding between base pairs to separate the These primers are then replaced with
strands into a Y shape known as appropriate bases. Another exonuclease
the replication fork. This area will be the “proofreads” the newly formed DNA to
template for replication tobeg in.DNA is check, remove and replace any errors.
directional in both strands, signified by a 5' Another enzyme called DNA ligase joins
and 3' end. This notation signifies which Okazaki fragments together forming a
side group is attached the DNA backbone. single unified strand. The ends of the linear
The 5' end has a phosphate (P) group DNA present a problem as DNA
attached, while the 3' end has a hydroxyl polymerase can only add nucleotides in the
(OH) group attached. This directionality is 5′ to 3′ direction. The ends of the parent
important for replication as it only strands consist of repeated DNA sequences
progresses in the 5' to 3' direction. However, called telomeres. Telomeres act as
the replication fork is bi­directional; one protective caps at the end of chromosomes
strand is oriented in the 3' to 5' to prevent nearby chromosomes from
direction (leading strand) while the other is fusing. A special type of DNA polymerase
oriented 5' to 3' (lagging strand). The two enzyme called telomerase catalyzes the
sides are therefore replicated with two synthesis of telomere sequences at the ends
different processes to accommodate the of the DNA. Once completed, the parent
directional difference. strand and its complementary DNA strand
coils into the familiar double helix shape.
 The leading strand is the simplest to In the end, replication produces two DNA
replicate. Once the DNA strands have been molecules, each with one strand from the
separated, a short piece of RNA called parent molecule and one new strand.
a primer binds to the 3' end of the strand.
The primer always binds as the starting
point for replication. Primers are generated
by the enzyme DNA primase.

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method.

The tree theories of DNA replication illustrated

Semi – conservative replication


In this method of replication, each newly formed
double helix retains (conserves) of the­two stran
ds of the original DNA double helix.­That is in e
ach of the newly constructed DNA molecules, th
ere is an old and new strand.

Illustration:­
Replication Enzymes
DNA replication would not occur without
enzymes that catalyze various steps in the
process. Enzymes that participate in the
eukaryotic DNA replication process include:
 DNA helicase ­ unwinds and separates
double stranded DNA as it moves along
the DNA. It forms the replication fork
by breaking hydrogen bonds between
nucleotide pairs in DNA.
 DNA primase ­ a type of RNA
polymerase that generates RNA primers.
Primers are short RNA molecules that
A representative portion of DNA, which is about act as templates for the starting point of
to undergo replication is shown. DNA replication.
DNA polymerase causes the two strands of the  DNA polymerases ­ synthesize new
DNA to separate. DNA molecules by
The DNA polymerase completes the splitting of adding nucleotides to leading and
the strand. Meanwhile free lagging DNA strands.
nucleotides are attracted to their complementary  Topoisomerase or DNA Gyrase ­
bases. unwinds and rewinds DNA strands to
Once the nucleotides are lined up joined together. prevent the DNA from becoming
The remaining unwinded bases tangled or supercoiled.
continue to attract these complementary nucleoti  Exonucleases ­ group of enzymes that
des. remove nucleotide bases from the end
Finally the nucleotides are joined to form a com of a DNA chain.
plete polynudeotide chain. In this  DNA ligase ­ joins DNA fragments
way two identical strands of DNA are formed. A together by forming phosphodiester
s each strand retains half of the bonds between nucleotides.
original DNA material, this method of replicatio
n is called Semi – conservative The nature of genes:­

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What are genes? It was therefore proved that the code is indeed a
Mendel defined gene as a unit of inheritance. Thi triplet code, meaning that three bases is the
s is an acceptable definition of gene but it code for one amino acid.
does not tell us anything about the physical natu
re of gene. Problems.
Below are ways of overcoming this objection. 1. Using different pairs of the bases A, G, T a
(i) A unit of recombination nd C list the 16 possible combinations of
It was shown that a gene was the shortest segme bases that can be produce.
nt of a chromosome which is separated from Anwer.
adjacent segments by crossing over. Base A G T
This definition regards gene as the specific regio A AA AG AT
n of chromosome determining a district G GA GG GT
chromosome in the organism. T TA TG TT
(ii) A unit of function C CA CG CT
It is known that genes are codes for proteins;­Th
erefore a gene is the DNA code for polypeptide.­
Since some proteins are made up of more than o 2. If four bases used singly would code for f
ne polypeptide chain and are coded by more our amino acids, pairs of bases code for the 16­
than one gene. amino acids and triplets of bases code for 64 a
mino acids, deduce a material to expression to
THE GENETIC CODE explain this.
The genetic code is the relationship between nitr Answer:
ogenous bases on the DNA and the acids.­It was
suggested that the genetic information which pas 4 bases used once = 4 x 1 = 4
sed from generation to and which­controlled the 4 bases used twice = 4 x 4 = 4 = 16
activities of the cell, might be stores in the seque 4 bases used thrice = 4 x 4 x = 64
nce for the production of­protein molecules it be The mathematical expression is X
come clear that these sequence of in the DNA m Where: X = Number of bases and
ust be a code for the­sequence of amino acids in Y = Number of bases used.
protein molecules relationship between bases an – It is thus a combination of three nitrogenous
d amino acids is known as the genetic code. bases a three lettered ward of AGC, AUA,
GCA etc.
In other words the genetic code is a means by w
hich the genetic information.
DNA controls the manufacture of specific protei Features (Characteristics) of the genetic code:­
ns, by the cells.
The problems remained were to demonstrate that 1. It is a triplet of bases in the polynucleotide cha
a base code consisted to break the code and­to d in codes for an amino in the polypeptide chain.
etermine how the code is translated in to the ami 2. The genetic code is degenerate i.e A given am
no acid sequence of a protein molecule. ino acid can be coded for by more to one
The code is triplet code.There are four bases in t code and (Codons­complementary triplets in the
he DNA molecules, Adenine (A), Guanine (G), mRNA).
Thymine (T) and Cytosin. Example:
Each base is a part of nucleotide and the nucleoti
des are arranged as a polynucleotide chain(stran
d). The sequence of base indicated by their first l
etters (alphabets) are responsible forcarrying the
code that­results in the synthesis of potentially in
finite number­ of different protein molecules.
There are 20 common amino acids used to make
protein and that the base in the DNA must­code f
or. If one base determined the position of a singl
e amino acid in the primary structure­of a protei
n, the­protein could have four different amino ac
ids. If a combination of base pairs coded for eac
h­amino acid then 16 acids could be specified int
o the protein molecule.
3. The genetic code is universal i.e. the same trip
Only a code composed of three bases could incor
let codes for the same amino acids all
porate all 20 amino acids into the structure­of pr
organisms.
otein molecules.

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4. The genetic code can be punctuated i.e. It has 2. Presence of receptor site for messenger RNA
got the ‘start’ and ‘end’ signals. attachment.
5. The genetic code is non­over lapping. E.g. If t 3. Presence of rRNA for attracting other types of
he base sequence is ACAGAGUCGG tRNA towards the ribosome.
then this will be read as ACA/GAG/UCG/GAC 4. Ability to read and ‘translate’ the message con
and not ACA / CAG / AGA. tained in the codes of mRNA.
6. The genetic code sequence has got no camma
e.g. AAU, GCG, GAC, etc. This is because Mechanism of protein synthesis:­
the bases are continuously sequenced on the DN There are four main stages in the synthesis of pr
A or RNA strand. otein:­
Note: The type of code where the number of ami
no acids is less than the number of codons is 1. Synthesis of amino acids:­
termed as degenerate. In plants, the formation of amino acids occurs in
Nonsense codons – These codons do not code fo mitochondria and chloroplast in a
r amino acids, they pregimably mark the­end poi series of stages:
nt of 2 chains. They act as stop signals for the ter (a) Absorption of nitrates from the soil.
mination of polypeptide chains (b) Reduction of those nitrates to the amino g
during translation. roup (NH ).
(c) Combination of those amino groups with
a carbohydrate skeleton (eg. α –
ketoglutarate from Krebs cycle).
(d) Transfer of the amino group from one car
PROTEIN BIOSYNTHESIS. bohydrate skeleton to another by a
‘DNA makes RNA and RNA makes Protein’ process called transamination.
Protein synthesis is a mechanism by which prote
in molecule is constructed by joining Animals usually obtain their acids from the food
the amino acids with the peptide bonds accordin they ingest, although they have
g to the instruction in the mRNA coded capacity to synthesize their own non­ essential a
from DNA. mino acids.

1. Synthesis of amino acids. 2. Transcription (formation of mRNA).


2. Transcription (Formation of mRNA). This is a mechanism by which the base sequence
3. Amino acid activation. of a section of DNA representing gene,
4. Translation. is converted into a complementary base sequenc
e of mRNA.
The site for protein synthesis is the ribosome. In this process a complementary mRNA copy is
These protein synthesized may have structural ro made from a specific region of the
le such as Keratin and collagen, or a molecule which codes for a polypeptide.
functional role such as insulin, fibrinogen and m
ostly important enzymes which are Mechanism of transcription
responsible for controlling all metabolism. It is t A specific region of the DNA molecule, called C
he particular range of enzymes that istron, unwinds. This unwinding is a
determines what type of cell it becomes. This is t result of hydrogen bonds between base pairs in t
he way in which DNA controls the activities he DNA double helix being broken.
of a cell. This exposes the bases along each strand and on
The instructions and information for the manufa e of these strands is selected as a
ctures of enzymes and all other proteins are template against which mRNA is constructed.
located in the DNA. However, the actual synthes This mRNA molecule is formed by linking free
is of protein occurs in the ribosomes in the­cytop nucleotides under the influence of RNA
lasm. Therefore a mechanism had to exist for car polymerase and according to the rules of base pa
rying the genetic information’s from iring between DNA and R
the nucleus to the cytoplasm. This link was from
messenger RNA. Table to show the RNA bases which are comple
mentary to those of DNA:
Adaptations of the ribosome to protein synthesi
s
1. Presence of appropriate enzymes that catalyze
the synthesis of polypeptide bonds
between the amino acids.

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Each type of tRNA binds with the specific amin


o acid which means there must be at least 20
types of tRNA.
Each type differs among other things in the com
position of a triplet of bases called terminates­in
the CCA. It is to the free end that the individual
amino is not known. The tRNA molecules­with
attached amino acids form an amino acid tRNA
complex known as aminoacyl­tRNA­and their fo
When the mRNA molecule has been synthesized rmation is under the enzyme aminoacyl­tRNA sy
they leave the nucleus via the nuclear pore­and nthetase. The combination now
carry the genetic code to the ribosomes. Along th moves towards the ribosome.
e mRNA is sequence of triplet codes­which have Illustration:­
been determined by the DNA. Each triple called
a codon.
When sufficient numbers of mRNA molecules h
ave been formed from the gene the RNA­polyme
rase molecule leave the DNA and the two strand
s ‘Zip up” reforming the double.

4.Translation.
Translation is the mechanism by which the seque
nce of bases in an mRNA molecule
converted into a sequence of amino acids in a po
lypeptide chain.
It occurs on ribosomes.
Several ribosomes may become attached to a mo
lecule of mRNA like bodies on string
end a whole structure is known as polyribosome
or polysome.
The advantage of such an arrangement is that it a
llows several polypeptides to be
synthesized at the same time.
The first two mRNA codons (a total of 6 bases)
enter the ribosome. The first codon
binds the aminoacyl–tRNA molecule having the
complemetary ‘anticodon’ and which is
3. Amino acid activation carrying the first amino acid (Usually – methioni
Activation is the process by which amino acids c ne) of the polypeptide being
ombine with tRNA using energy from ATP. synthesized.

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The second codon then also attracts an amino ac  Polypeptide chain initiation.
yl­tRNA molecule showing the  Chain elongation.
complementary anticodon.  Chain termination.
The function of the ribosome is to hold in positio  Fate of mRNA.
n the mRNA, tRNA and the associationenzymes
controlling the process until a peptide bond form The polypeptides so formed must now be assem
between the adjacent bled into proteins. This may involve the­spirallin
acids. g of the polypeptides to give a secondary structu
re, its folding to give a tertiary­structure and its c
ombination with other polypeptides and or prost
hetic group to give a quatenary structure.
If the ribosome is attached to ER (rough ER) the
protein enters the ER to be transported.

Question.(a) Describe how a single stand of mR


NA is being constructed from one of the
strands of DNA.
(b) If the base sequence on the portion of DNA
strand is AGTCCACCATAA,
(i) What is the base sequence on the portion of
mRNA constructed by this
portion?
(ii) How many amino acid molecules are there i
n the base sequence given above?

Answer:

Thus the base sequence on the mRNA will be U


CAGGUGGUAAU
Once the new amino acid has been added to the Since there are four triplets each responding a si
growing polypeptide chain, the ngle amino acid, then there will be four
ribosome moves one codon along the mRNA. Th amino acids.
e tRNA molecule which was
previously attached to the polypeplide chain now
leaves the ribosome and passes back to Introns and exons.
the cytoplasm to be reconverted into a new amin It was discovred that the DNA of eukaryotic gen
oacyl – tRNA molecule. e is longer than its corresponding mRNA. It­sho
This sequence of ribosome ‘reading’ and ‘transla uld be the same length because the messenger R
ting’ the mRNA code continues until it­comes to NA is a direct copy discovered that­immediately
a codon signaling ‘stop’. These terminating cod after the mRNA is made, certain sections of the
ons are UAA,UAG, and UGA.At this point the p molecule out before it is used in­transaction. The
olypeptide chain, now with its primary structure sections of the gene that code for the unused pie
as determined by­DNA, leaves the ribosome and ces of RNA are called­Introns. The remaining se
translation is complete. ctions of the gene the code for the protein and ar
e called exons.
The main steps involved in­translation may be su
mmarized under the following headings;­ Summary:
 Binding of mRNA to ribosome. Eukaryotic genes contain regions called Introns
 Amino acid activation and attachment to tR which do not code for the amino. The parts
NA.

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of the genes that code for amino acids are called the presence of an alternative allele e.g. A
exons. Recessive – The allele which influence the appe
arance of the phonotype only be or
MENDELIAN GENETICS in the presence of another identical allele e.g. a
F1 generation – The generation produced by cro
Gregor Johan Mendel did studies of genetics usi ssing homozygous parents.
ng the Pisum sativan (garden peaces). F2 generation – The generation produced by cro
He was trying to find the laws that govern the pa ssing two F1 organisms.
ssage of characters from one generation to
another. Basic Monohybrid ratio
He established that Pisum sativum had the follo This is the phenotypic ratio contained in the F2
wing advantages over other species:­ generation of the original pure parents.The ratio
1. They were several varieties available which h is always 3:1
ad quite district characteristics.
2. The plants were easy to cultivate Mendel’s experiment and the Monohybrid ratio
3. The reproductive structures were enclosed by In one of his experiments, Mendel crossed a red
the petals, this made the plant self flowered plant from a pure line with a­white flo
pollinating and hence producing varieties of the wered plant also from a pure line. Al the resultin
some characteristics (pure breading). g F1 plants had red flowers.
3. Artificial cross – breeding between varietie When the F1 members were selfed, the resulting
s was possible and resulting hybrids were F2 were a mixture of red and white
confertile. phenotypes in the approximate ratio of 3:4.
This is the basic monohybrid ratio obtained from
Mono hybrid inheritance and the principle of s a cross between two heterozygous
egregation:­ individuals.
Monohybrid inheritance is a pattern of inheritanc Illustration:­
e which involves two contrasting
variations of only one characteristic.
Example:
Tall Vs short (height).
Red Vs White (colour).
Rough Vs Smooth (texture).

Glossary of common genetic terms:­


Gene ­The basic unit of inheritance for a given c
haracteristic.
Allele – One of number of alternative forms of th
e same gene responsible for
determining contrasting characteristics e.g. A or
a (pared genes).
Locus – Position of an allele within a DNA mole
cule. Alleles of one gene are on
one locus.
Homozygous – The diploid condition in which th
Non coding DNA.
e alleles at a given locus are
identical e.g. AA or aa.
Though human DNA contains large number of g
Heterozygous – The diploid condition in which t
enes, the problem is about 95% of the DNA­app
he alleles at a given locus are
ears to have no obvious function because it is no
different e.g. Aa.
n – coding. In other words does not code
Phenotype – The observable characteristics of an
for proteins or RNA.
individual usually resulting from
(i) The factor for redness was dominant over that
the interaction between the genotype and the env
for whiteness which was red.
ironment in which development occurse.g. Red,
(ii) The factor for whiteness was present in the F
blue.
1 though not expressed effect was obscured
Genotype – The genetic constitution of an organi
by the factor for redness.
sm with respect to the allele
(iii) The characteristic red and the characteristic
under consideration e.g. AA2, A2, or did.
white remained unchanged. I.e.: There was
Dominant – The allele which influence the appe
no an intermediate colour.
arance of the phenotype even in

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(iv) Each characteristic is controlled by a pair of


factors that segregate during gamete
formation.

This observation, suggested to Mendel the formu


lation of his first law “the law of
segregation.”
Assumptions:–
(i) Let ‘R’ be factor redness and ‘r’ factor for wh
iteness.
(ii) Let ‘R’ dominate ‘r’ so that when the two are
together, only R is expressed.
(iii)Let each character be controlled by a pair of
factors that segregate gametes
formation.

Phenotypic ratio 3Red : 1White

MENDEL’S 1 LAW OF INHERITANCE (LAW


OF SEGREGATION)
The law states that:­
“The characteristics of an organism are determi
ned by internal factors which occur in
pairs. Only one of a pair of such factors can be r
Consider the following cross:­
epresented in a single gamete.
Parental phenotypes Pure breeding Red flo Meiotic explanation of Mendel’s first law.
wer x Pure bleeding White flower Although Mendel knew nothing about Meiosis, b
ut his first law is explained by Meiosis
as follows:­
 During Meiosis, the paired homologo
us chromosomes, separate from each or
her as a­result of which the gametes receive only
one type of chromosome instead of the normal
two.
 Alleles also occur in pairs at the homo
logous chromosomes, thus separation of
homologous chromosomes occurs currently with
the separation of alleles.
 Thus, there is similarity between separ
ation of homologues chromosomes in Meiosis an
d segregation of Mendelian factors .
We know that Mendel’s factors are specific porti
on of a chromosome called genes. We
also know that the process which produces game
tes with only one of each pairs of
factors is Meiosis. On the basis of his results, Me
ndel had effectively predicted the
existence of genes and Meiosis.

Methods used to solve Mendelian problems:­


(a) Algebraic method.
(b) Punnet square/chequer board method.
(c) Mendelian crosses/genetics diagrams

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(A) Algebraic method


– Consider a cross between two tall plants both h
eterozygous for height.

(b) If he marries, the genotypes and phenotypes


of there child will depend on the
genotype of the woman.
(c) If she is homozygous tall, then half the offspr
ing will be phenotype tall and the half
short(dwarf) above reveals.
If she is homozygous dwarf, then the products w
Symbols used in genetics:­ ill be.
In genetics any symbol can be used to represent
any characteristics provided it is
defined.However, it is common that a dominant
characteristic is represented by the first latter of­i
ts name. Eg. R for red, T for tall, G for green etc.
The characteristics will take the lower­case lette
r of the dominant one e.g r white where R red is
dominant to white. The­symbol P1 stands for par
ents and F1 and F2 are filial generations 1 and 2r
espectively

Example: One of the causes of dwafirsm in ma


n is the inheritance of dominant gene D.The all
ele for a normal height is d, Given that the gen
otype for Kijeba a man suffering­from dwafirs
m is Dd, work out the genotype and phenotype r
ations of the offspring if he marries.
(a) A normal woman
(b) A dwarf woman

Solution:­
Given: D – allele for dwarfness
d – allele for tallness P. phenotype: Dwarf x Dwarf
Genotype: Dd Dd
The genotype ratio will be 1 DD: 1 Dd

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If she is heterozygous dwarf, then the products w Let R = allele for round seeds
ill be. R = allele for wrinkled seeds
If the plant producing round seeds have the geno
type RR.

Genotype ratio is 1DD : 2Dd: 1dd


Phenotype ratio is 3 Dwarf : 1 tall

BACK CROSS AND TEST CROSS


Back cross – This is a cross between an organis
m and either of its parents.
Test cross – This is a cross between an experime
ntal organism with a dominant
phenotype and that of a recessive phenotype, of i
ts parent so as to determine the
genotype of that experimental organism.
Conclusion: The only possible offspring are plan
ts which produce round seeds, thus the
unknown genotype is RR.
Explanations:­
One common genetic problem is that an organis If the plant producing round seeds have the geno
m which shows a dominant character has type Rr
two possible genotypes.

Example
A plant producing seeds with round coats could
either be homozygous dominant (RR)­heterozy
gous (Rr). The appearance of the seeds (phenot
ype) is identical in both cases.However it is ofte
n necessary to determine the genotype accurate
ly.
This involves the use of a technique known as
Test mass in which an organisms is
unknown genotype is crossed with the one whos
e genotype is accurately known.
A genotype which can positively be identified fr
om its phenotype alone is one which
shows recessive features.
In the case of the seed coast, any pea seed with
a linked coast must have the genotype­“rr”. By
crossing the dominant character, the unknown
genotype can be identified.

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b represents grey fur (recessive)

This 1:1 ratio is the monohybrid test cross ratio o


btained from a cross investigation between
heterozygous dominant and a homozygous reces
sive.

Questions
1. If a pure strain of mice with brown­coloured
fur are allowed to breed with a pure of mice­wit
h grey­coloured fur, they produce offspring wit
h brown­coloured fur. If F1 mice are­allowed t
o interbreed­they produce an F2 generation wit
h fur coloured in proportional of three brown­c
oloured to one grey.
Explain their result fully.
What would be the results of meeting a brown –
coloured heterozygote from the generation
with the original grey – coloured parent?

Answer:
Let: B represents brown fur (dominant)

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characteristics behaves as if it is in the monohyb


rid cross.

Now, treating each characteristic separately we h


ave:­
(a) Considering seed texture (Ignore colour)
Round Winkled
315 + 108 101 + 32
423 133
133 133
3 : 1
(b) Considering colour (Ignore seed texture)
Yellow Green
315 + 101 108 + 32
F1 phenotype. A
ll brown fur 416 140
140 140
NON – MONOHYBRID INHERISTANCE = 3 : 1
This is a pattern of inheritance which involves m Thus, in the F2 generation of a dihybrid cross ea
ore than one character. These may be two ch characteristics, has a phenotype ratio of 3:1
three etc. The binomial of the two ratios renders.
(3:1) (3:1) = 9:3:3:1
DIHYBRID INHERITANCE AND MENDEL’ Thus, the dihybrid ratio is a binomial expression
S LAW OF INDEPENDENT ASSORTMENT. of two bases monohybrid rations.
Genetic representation of the dihybrid cross:­
Dihybrid inheritance is the pattern of inherita Let R= allele for round seed
nce which involves inheritance of two r= allele for wrinkled seed
characters simultaneously. G= allele for yellow seed
In one of his experiments Mandel investigated th g= allele for green seed.
e inheritance of the seed shape (size Vs Parents Phenotype: round yellow seed Vs wrin
Wrinkled) and seed colour (Yellow Vs green) at kled green seed
the same time. He knew from the Genotype:
monohybrid crosses that the round seeds were do RRGG rrgg
minant to wrinkled ones and yellow seeds­were
dominant to green. He chose to cross plants with
both dominant seed (round and
yellow) with one that were recessive for both (W
rinkled and green).
The F1 generation yield plants all of which prod
uced round, yellow seeds – hard surprising
as these are two dominant features.
F1 seeds were planted and then allowed to self p
ollinate. The resulting members were a
mixture of phenotype in the following proportio
ns:
315 Round yellow (Two dominant features).
701 Wrinkled yellow (recessive and Domina
nt).
108 Round green (Dominant and recessive).
32 Wrinkled green (Two recessive features).
Those numbers represent an appropriate ratio of
9:3:3:1. This is the basic dihybrid ratio.
In a dihybrid cross, characteristic behaves indepe
ndently of the other i.e Each

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From above example, there is a1 in 4 chance of a


ny gamete containing any of the F2 allele
combination shown above.
From a consideration of monohybrid inheritance
where ¾ of the F2 phenotypes show the­domina
nt allele and ¼ the recessive allele, the probabilit
y of the four alleles appearing in any
F2 phenotype as follows:

Round (dominant) ¾.
Yellow (dominant) ¾.
Wrinkled (Recessive) ¼.
Green (Recessive) ¼.

Hence the probability of the following combinati


ons of alleles appearing in the F2
phenotypes is as follows:­
Round and Yellow = ¾ x ¾ = 9/16.
Round and green = ¾ x ¼ = 3/16.
Round and yellow = ¼ x ¾ = 3/ 16.
Wrinkled and green = ¼ x ¼ = 1/16.

MENDEL’S 2ND LAW OF INHERITANCE (


LOW OF INDEPENDENT ASSORTMENT)
In the dihybrid inheritance, Mendel realized that
during gametes formation in each sex either­one
or another pair of factors may enter the same ga
metes cell (random combination) with­either one
Punnet square to show the fusion of gametes:­ or another­cell. The law states that:­“Any one of
Gamet RG Rg a pair of characteristics may combine with eithe
RG RRGG RRGg r one of another pair”
Rg RRGg RRgg
rG RrGG RrGg Meiotic explanation of Mendel’s second low
rg RrGg Rrgg Mendel’s second law is explained by Meiosis as
follows:­
Phenotype: During gametes formation, the nglish­swahili/dis
Round yellow RG­9 tribution” target=”_blank”>distribution
Round green Rg­3 of each allele from a homologous chromosome p
Wrinkled yellow rG­3 air, is entirely independent of the
Wrinkled green rg­1 nglish­swahili/distribution” target=”_blank”>dis
tribution of alleles of another pair. It is
Hence the ratio 9:3:3:1 random alignment of the homologous chromoso
mes on the equator spindle in
“Metaphase 1” and their subsequent separation i
How to calculate the genotype and phenotype r n “Anaphase I” that leads to a variety of
atio of a dihybrid cross. alleles in the gametes.
There are two alternative ways:­
(a) By counting the number of boxes on the punn Examples:
et square containing the genotype and 1.In the guinea pig (cavia), there are two alleles
phenotype of interest. for hair colour, black and white, and­two allele
(b) Using a method based on the probability prin s for hair length short and long. In a breeding e
ciple that:­ xperiment the F1 phenotypes­produced from a
“The chances that a number of independent even cross between pure – breeding short black haire
ts will occur together, is square to the d and pure – breeding,long white – haired pare
product of the chances that each event occur sep nts had short black hair. Explain;
arately.” (a) Which alleles are dominant, and

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(b) The expected proportions of F2 phenotypes. ture). Thus chromosomes carrying the­alleles f
or seed colour are homologous with another as
Answer those for seed form.
(a) If short black hair appeared in the F1 phenoty
pes, then short hair must be dominantto long hair
and black hair must be dominant to white.
(b) Let B represent black hair
b represent white hair
S represent short hair
s represent long hair.
F1 phenotypes Short black hair x
– At Meiosis, the homologous chromosomes co
short black hair
me together (assort), but they carry
F1 genotypes (2n) SbBb
themselves on the spindle independently of eac
SsBb
h other. They may arrange themselves in one
gametes SB Sb
of the following way
sB sb
Or

Gamete SB Sb
SB SSBB SSBb
Sb SSBb SSbb
sB SsBB SsBb
sb SsBb Ssbb

9 short black hair : 3 short white hair : 3 long bla


ck hair : 1 long white
hair

RrYy: Ry, RY, rY, ry


2. Flower colour in sweet pea plants is deter
mined by two allelomorphic pairs of gene (R,r­
Question:­
and S,s). If at least one dominant gene from ea
(i) State Mendel’s laws of inheritance.
ch allelomoorphic is present in the flowers are­
(ii) State the observations made by Mendel that
purple. All other­genotypes are white. If two pu
led him to formulate his laws of inheritance.
rple plants, each having the genotype RrSs, are
(iii) Discuss in fully as you can how the behavi
crossed, what­will be the phenotypic ratio of the
our and movement of chromosomes during
offspring?
meiosis, explain Mendel’s laws of inheritance
Answer
Parental phenotype: Purple x Purple
NECTA 1973
Parental genotype: RrSs x RrSs
In guinea pig, rough coat is dominant over smo
gametes RS Rs
oth coat and black coat is dominant over
rS rs
white coat. When a rough black guinea pig was
crossed with a rough white guinea pig the
Gamete RS Rs
offspring obtained were.
RS RRSS RRSs 328 rough black
Rs RRSs RRss 311 rough black
rS RrSS Rrss 111 smooth black
rs RrSs Rrss 110 smooth white
What were the genotypes of the parents?
Offspring phenotype: 9 purple : 7 white

3. Consider a pea plant with round yellow se Answer:


eds of the genotype Rr Yy. This means there are Let – R­ rough coat
­two pairs of homologous chromosomes. One p r­ smooth coat
air carrying the allele for the colour and­anoth B­ black coat
er pair carrying the allele for the seed form (tex

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b­ white coat Colour


White Red
– In the dihybrid cross, each character behaves i 109 + 29 38 + 100
ndependently of the other. Thus considering 138 188
coat texture we have:­ 138 138
Rough Smooth 1 : 1
328 + 311 110 + 111 – This is a monohybrid test cross ratio obtained
639 221 when a homozygous recessive is crossed
221 221 with a heterozygous dominant.
= 3 : 1 Consider the two crosses for colour only
This is a basic monohybrid ratio obtained from a
cross involving two heterozygous
individuals. Thus, the genotype of the rough coat
with respect to this gene was Rr.
Considering coat colour.
Black White
328 + 111 311 + 110
439 421
421 421
= 1 : 1
This (1:1) is a monohybrid test cross ratio obtain
ed from a cross of a heterozygous
dominant and a homozygous recessive.
Therefore the genotype of a black coat was Bb a
nd that of a white coat
Therefore, the genotypes of the parents were:­
Rough black : RrBb
Rough white : Rrbb

5. A tall plant with red flowers, form a true bree


ding line was crossed with a short plant­with w
hite flowers. One of the resulting plants was cro
ssed in short red flowered plant
unknown parentage.
This cross gave the following results:­
109 – short white Heterozygous dominant x Red (Unknown parent
38 – tall red age)
29 – tall white 1 White : 1 red
100 – short red From the above cross, the red colour was recessi
(i) Interprete the results. ve to white.
(ii) What was the phenotype of the plants produ Defn: of symbols
ced by cross I?. Let: W = White
w = red
Answer: S = short
According to Mendel’s 2 law, in a dihybrid cro s = tall
ss, each characteristic behaves
Nd independently of the other.
– Thus, treating each characteristic separately we
have:
Short Tall
109 + 100 38 + 29
209 67
67 67
=3 : 1
– This is a basic monohybrid ratio obtained from
a cross between two heterozygous
plants
– From this ratio, short is dominant over tall.

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338 axial white flowers.


109 terminal purple flowers.
84 terminal white flowers.
304 axial purple flowers.
– Due to their elementary knowledge in genetic
s, Sophia and Issa failed to interprete their
results.
– Using your advanced biology knowledge, sho
w how Issa and Sophia could;
(i) Interprete their results
(ii) Identify the genotypes and phenotypes of th
e plants produced in the first cross.

Answer:
(i) According to Mendel’s second law, each char
acteristic in a dihybrid cross behaves
independently of the other. Thus, treating each c
haracteristic separately we have.
– Considering position of the flowers, we have:­
Axial Terminal
338 + 304 109 + 34

= 3 : 1
This is a basic monohybrid ratio obtained given
a cross between two heterozygous
individuals.
From this ratio, axial flowers are dominant over t
erminal flowers.
Considering colour of the flowers:­
Purple White
304 + 109 338 + 84
Punett square to show the fusion of gametes
Gamete SW Sw = 1 : 1
Sw SSWw SSww This is a monohybrid test cross ratio obtained fro
m a cross between a heterozygous dominant
sw SsWw Ssww
and homozygous recessive.
Considering the two crosses for flower colours o
The phenotypes are:­
nly.
3 short white
3 short red
1 Tall white
1 Tall red
(ii) From cross 1 above, the phenotypes of th
e product was short white.

6. Two form IV students Sophia and Issa were


eager to put into practice their genetic
knowledge. They carried out the following cros
ses:­

CROSS I
A pure breed plant for terminal purple flowers
was crossed with a home plant for axial white
flowers.
CROSS II
A plant with axial purple flowers of unknown p
ercentage was crossed with one of the
products of the first cross. This cross produced
the following results.

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Merits and demeritis of mendel


Merits:­
Mendel was successful in his work where others
had failed.
 He was very systematic and scientific in his
researches and data analysis and for this re
ason
he managed to come out with the laws of in
heritance.
 He realized the role of gametes in the transf
er of genetic information from parents to th
eoffspring.
The secret behind Mendel’s success is withi
n the following facts:­
 Preliminary investigations were carried out
to obtain familiarity with experimentalorga
nisms.
 He paid attention to one characteristic at a t
ime.
 He used organisms with limited continuous
variations
 Meticulous care was taken during data coll
ection and analysis so as to avoid introducti
on of contaminating variables.
 He collected sufficient data to have statistic
al significance

Demerits:
The shortfalls of Mendel include the following:­
 His gametes describe only the diploid sexu
ally reproducing organism. The haploid org
anisms
Since this ratio is obtained when a heterozygous
such as Bryophylum are not explained.
dominant is crossed with homozygous
 His gametes is only based on the dominatin
recessive, then purple was recessive and white w
g­ recessiveness principle’s but not all the
as dominant.
time that one characteristic is dominant ove
Definition of symbols:­
r the other.
Let:­ A – axial
 Not all the time genes assert freely. Linkag
a – terminal
e enterferes was free assortment.
W – white
 Mendel did not consider gene interaction su
w – purple
ch as epistesis collaboration, lethal genes et
Punett square to show the fusion of gametes:­
call of which interfere with his basic ratio.
Gamete AW Aw
Aw AAWw AAww
More examples:
aw AaWw Aww 1. The position of starch in pollen grains in mai
ze is controlled by the presence of one
The phenotypes are in the following proportions­ allele of certain gene. The other allele of that g
3 Axial white ene results in starch being deposited.
3 Axial purple Explain in terms of reasons why half the pollen
1 Terminal white grains produced by a heterozygous plant
1 Terminal purple contain starch.
The results Issa and Sophia have been interprete
d since the ratio obtained corresponds with Answer:
the figures given. The two alleles segregate during metaphase I an
From Gross 1 above, the genotype and phenotyp d anaphase I.
e of the products of the flowers cross are
AaWw and axial white respectively. 2. Calculate the number of different combinatio
n of chromosomes in the pollen grains of

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the cross (cross balance) which has a diploid n


umber of six (2n = 6).

Answer:
The number of different combination of chromos
omes in the pollen grants cell is
calculated, using the formula 2n, whore n is the
haploid number of chromosomes.
Since 2n = 6, n = 3
Therefore, combination = 23 = 8

NON – MENDELIAN GENETICS


This is simply a pattern of inheritance in which t
he basic Mendelian ratios are modified.
Examples:
INCOMPLETE DOMINANCE (under gene int
eractions)
Incomplete dominance/ Blending – Is a type of i
nheritance in which there occur the
apparent failure of one allelic gene to dominate t
he other that when the two genes are
together, they produce a character between them.

Example
A cross between a white Andalusian (fowl) and
a black Andalusian produce a blue
variety in the F1 generation. When the F1 mem
bers are selfed, the F2 individuals are a
mixture of phenotypes ie: black, blue and white
in the ratio of 1:2:1

Genotype ratio: 1 BB : 2 BW : 1 WW
Phenotype ratio: 1 black : 2 blue : 1 white

QN. NECTA 1993


A genetist who was verifying Mendel’s first law
and second law crossed 45 homozygous red­flo
wered plants with 45 homozygous white flowere
d plants. The resulting F1 were 530 plants­all w
ith pink flowered plants, the seeds obtained wer
e planted and F2 offspring with the
following phenotypes were obtained.
1292 red flowered.
2570 pink flowered.
1290 white flowered.
(a) Illustrate using symbols the crosses made a
nd the results obtained in the experiment
described above.
(b)(i) What is the name above experiment?
(ii) How do the above observations differ fro
m the results of Mendelian work which led
him to formulate his laws of inheritance?
(c) Describe the genetical test you would carry
out to prove weather not the appearance of the­

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pink flower in the above experiment is true devi The result of the test cross above will give produ
ation from Mendel’s principles of inheritance(2 cts of red (RR) and pink (RW) in the ratio of1:1.
0marks). The above show a siltation of RW (Pink) and RR
(red). This can prove that therehas been no true
Answer: blending, has occurred in F1 generation then we
(a) Let R – allele for red colour. could expect offspring
W – allele for white colour. which were again all pink flowers.
RW – genotype for pink colour (flower) The appearance of pink colour trait in the F1 gen
eration is not a true deviation from
Mendel’s laws; otherwise the gene for red could
not be reviewed unchanged.
It was just observed when in the presence of W
W (White) while its identity was being
retained.Thus, the inheritance of the flower colo
ur in the experiments precisely obeys Mendel’s
principle of inheritance only the phenotype ratio
s are different.

PARTIAL DOMINANCE (CO DOMINANCE


& INCOMPLETE DOMINANCE)
Sometimes both alleles express themselves in th
e phenotype, but one more so than
another. This is an intermediate stage between c
omplete dominance and co dominance.
LINKAGE
For just 23 pairs of chromosomes to determine t
he many thousands of different human
characteristics, it follows that each chromosome
must possess many different genes.
Any two genes which occur in the same chromos
ome are said to be linked. All the genes
on a single chromosome form a linkage group.
Under normal circumstance, all the linked genes
remain together during cell division
and so pass into the gamete, and hence the offspr
ing, together. They not therefore
segregate in accordance with Mendel’s law of In
dependent Assortment.
The figure below shows the different gametes pr
The F2 members are 1292 red flowered, 2570 Pi oduced if a pair of genes A and B are
nk flowered, 1290 White flowered linked rather than on separate chromosomes.
(b) (i) The name of the mode of inheritance is In
complete dominance inheritance.
(ii) The observation differ from Mendelian princ
iples in that, the inheritance the flower
colour does not follow the dominance – recessiv
eness principle.
All the F1 offsprings are pink flowered instead o
f them to show the dominant colour from­either
of the experiment is fully dominance or fully rec
essive. In the Mendelian experiment,when F1 ar
e selfed­the resulting one in the dominance­reces
sive phenotypes ratio is of 3:1. But in this
experiment, selfing the F1 individuals give 1:2:1
.
(c) The genetical test to be carried out is back tes
t cross in which the pink flowers plant willbe test
crossed with either of the homozygous plants sa
y red flowered plant RR.

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ars extra genes.

Those genes that are inherited together with sex


chromosomes are called sex – linked
characters (traits).Two well known sex­linked ge
nes in humans are those causing haemophilia an
d pale­green colour blindness. Both are linked to
the X­chromosome and both occur almost
exclusively in males.

For the condition to arise in females, requires the


If gene A and B occur on separate chromosome double recessive state and as the recessive­allele
s ie. are not linked is relatively rare in the population, this is unlikel
y to occur. In females the recessive­allele is nor
mally masked by the appropriate dominant allele
which occurs on the other X –chromosome. The
se heterozygous females are not themselves affe
cted but are capable of­passing the recessive alle
le to their offspring.­For this reason such female
are termed Carriers.
When the recessive allele occurs in males it expr
esses itself because the Y – chromosome
cannot carry any corresponding dominant allele.

HAEMOPHILIA
Hemophilia is the inability of blood to clot, leadi
ng to slow and persistent bleeding especially
in the joints. Unlike colour blindness it is potenti
ally lethal.
Hemophilia is a sex linked character caused by a
recessive allele which is carried by the X –chro
mosome
.
NOTE: Linked genes do not confirm to Mendel’ Consider the following genetic attributes:­
s principle of independent assortment,therefore t XH XH – Normal female.
hey fail to produce the expected 9:3:3:1 ratio in a X HXh – Normal but carrier female.
breeding situation involving the Xh Xh – Hemophilia female.
inheritance of two pairs XH Y – Normal male.
of contrasted characters (dihybrid inheritance). Xh Y – hemophilia male.

SEX­LINKAGE: Hemophilia females are rare in nature because:­


Sex linkage refers to the carrying of genes on the 1. Mostly, they do not grow beyond the first men
sex chromosomes.­The X chromosome carries strual flow.
many such genes, the Y chromosome has very fe 2. For a female to have haemophilia, both X – ch
w.The non – homologous part of the X – chromo romosomes must bear the allele h, in the
some with Y – chromosome is the one­which be heterozygous state, one is normal.
Example

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Consider a cross between a carrier female and a


normal male.

No.off individual showing recombinant  100%


COV 
No.of offspring

Gene mapping
Calculation of COV enables geneticists to produ
ce maps showing the relative positions of­genes
on chromosome. Chromosome maps are constru
cted by directly converting the COVMbetween g
enes into
hypothetical distances along the chromosomes.

SEX DETERMINATION
Sex is a state of being male or female.
In human there are 23 pairs of chromosomes of t
hese 22 pairs are identical in both sexes. The
23 pair, however is different in the male from t
he female.
The 22 identical pairs are called autosomes, the
23 pairs are referred to as sex chromosomes
From the cross, or heterosomes.
1. All the females are phenotypically normal. In females the two sex chromosome are identical
2. 50% of the males, are hemophiliac. (X chromosomes) are said to be
edu.co.tz Homogametic, while in males the two chromoso
Considering a reciprocal cross we have mes are non­ identical (Y – chromosome is
smaller in size than X –
chromosome) and are said to be Heterogametic.
Unlike other features of an organization, sex is d
etermined by chromosomes rather than genes.
Humans of genotype XXY are phenotypically m
ale, while genotypes with just one X
chromosome (XO) are phenotypically female. T
his suggests that the presence of the Y
chromosome which makes the human male, in it
s absence the sex is female. How does the Y
chromosome determine maleness?
The Y chromosome possesses several copies of a
testicular differentiating gene which codes­for t
he production of a substance that causes the undi
fferentiating gonads to become testes. In­the abs
ence of the gene and hence this substance, the go
nads develop into ovaries.
In humans, sex is determined by the type of sex
chromosome contained in the
Crossing over and crossover values (COV) spermatozoa that fuses with an X – chromosome
During cross over (in chiasmata formation), the of the egg cell.
alleles of par If the X – chromosome bearing sperm fuses with
ent linked group separate and­new associations o an X­ chromosome of the egg cell, the
f alleles are formed in the gamete cells, a process resulting zygote will develop into a female (XX)
known as genetic recombination. .
Offspring formed from these genes showing ‘ne If the Y­ chromosome bearing sperm fuses with
w’ combinations of characteristics are known an X – chromosomes of the egg cell, the
as recombinants. Hence crossing over is a source resulting zygote will develop into a male (XY).
of variations.
The recombination frequency (COV) is calculate Consider a cross below
d using the formula

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generation was test crossed with a double homoz


ygous recessive plant the following
progency were produced.
52 Purple flower, short stem.
47 Purple flower, long stem.
49 red flower, short stem.
45 red flower, long stem.
Explain these results fully.

The F1 phenotypes show that purple flower and


short stem are dominant and red flower
and long stem are recessive. The approximate rat
io of 1:1:1:1 in a dihybrid cross
suggests that the two genes controlling the chara
cteristics of flower colour and stem
From this cross it is evident that;
length are not linked and the four alleles are situ
(i) The chances of a zygote develop into a male
ated on different pairs of chromosomes(see belo
or female are 50%
w).
(ii) The sex of the individual before to be born is
Let P­ Purple flower
determined by the father.
p – Red flower
S – Short stem
Sex determination differs in other organisms. In
s – Long stem
birds, most reptiles and fish and all
Since the parental sticks were both homozygous
butterflies, the male is the homogametic sex (XX)
for both characteristics the genotypes
and the female is from the cross, all the
must be PpSs.
resulting individuals are phenotypically normal
with all females beings carriers.

Questions.1.
A certain species of flies has, the following gene
tic attributions
1. Female flies have two X­ chromosomes (XX).
2. Male flies have one X­ and one Y – chromoso
me.
3. Y chromosome does not bear extra genes.
4. Eye colour is sex linked and red colour is dom
inant over white eye colour trait.
Offspring phenotypes: 1 purple flower, short ste
What will be the genotype and phenotype of the
m : 1 purple flower, long stem.
female and males in the F1 and F2
1 red flower, short stem :
when;
5. White eyed female is crossed with a red eyed 1 red flower long stem.
male.
6. A homozygous red eyed female is crossed wit
h a white eyed male.
MULTIPLE ALLELISM
Multiple alleles are those alleles of a single locus
Questions.2.
Siku and her brother Juma have their elder broth when there are more than alternatives in a
er who is haemophilic. They and their population.
In humans, the inheritance of the ABO blood gro
parents are normal but they are worries that they
ups is determined by a gene which has
may have haemophilic children in
different alleles. Any two of these can occur at a
future. If they approach you for help how would
single locus at one time.
you advice them?
Allele A causes production of antigen A on red b
Questions.3. lood cells.
Allele B causes production of antigen B on red b
A homozygous purple flowered short­stemmed p
lood cells.
lant was crossed with a homozygous
Allele O causes no production of antigens on red
stemmed­flowered long stemmed plant and the F
blood cells.
1 phenotypes had purple flowers and
short stems. When the F1 Alleles A and B are codominant and allele O is r
eceive to both.
Questions.4.

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The transmission of these alleles occurs in norm


al Mendelian fashion.
A cross between an individual of group AB and
one of group O therefore gives rise to
individuals non of whom possess either parents b
lood group.

Phenotype: blood group AB


x blood group O

Gamete IA
IO IAI0

Paternity suits.
Although blood group cannot prove who a father
of a child is, it is possible to use inheritance
to show that an individual could not possibly be t
he father. Other characteristics controlled by multiple allel
Imagine a mother who is blood group B having a es are coat colour in mice, eye colour.
child of blood group O. She claims the­father is
man whose blood group is found to be AB. As th Worked examples
e child is group O, its only possible 1. A woman of blood group A claims that a fa
genotype is IO IO. It ther of blood group B is the father of herchild w
must therefore herited one I­allele from each par hose blood group is O. How far are the woman’s
ent. claims valid?
The mother, if IBIO could donate such­an allele.
The man with blood group AB can only have th Answer.
e genotype IA IB. He is unable to If both are heterozygous for their blood groups, t
donate an IO allele hen the woman’s claims are valid, but if­either o
and cannot therefore be the father. f them is homozygous for the blood group then
women’s claims are invalid.
Dominance series 2. Anna is a woman married to John. This coupl
Coat colour in rabbits is determined by a gene C e once had a child, Kitto was one day
which has four possible alleles. discovered that his parents were in bad terms. Jo
Alleles CF determines full coat colour and is do hn claims that Kitto is an illegitimate
minant to child but Anna is opposing the case. Blood tests
Allele CCH which determines chinchill a coat an rewards that John is of type A and Kitto­is of blo
d is in turn dominant to od group O. Anna’s mother blood type is B and
Allele CH which determines Himalayan coat an Anna’s father blood group type
d is in turn dominant to is AB. Using this information alone
Allele C A which determines albino coat colour. (i) Suggest the possible genotype for Anna, s
There is therefore a dominance series and each t how how you determine genotype.
ype has a range of possible genotypes. (ii) Show dearly whether Kitto is or he is not
Inheritance is once again in normal Mendelian fa an illegitimate child of the said family.
shion Answer
Since Kitto is of blood group O, then his genoty
pe is of no doubt.
This implies that the genotype for Anna should h
ave an allele I considering Anna’s
parents we have:
Mother: Blood group B whose possible genotype
s are IB IB or IB IO
Father: Blood group AB whose possible genotyp
e is IA IB
But for Anna to have an allele IO in her genotyp
es, the mother should bear the allele I O.
Thus, the genotypes should be IB I B
A cross between Anna’s parent reveals the follo
wing;

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Since Anna is heterozygous for her blood group


and John is of blood group A, then the­legitimac
y of Kitto will depend on John’s genotype. If he
3. Write an essay on the statement that “the kno
is heterozygous for his blood
wledge on the inheritance of blood group­can be
group, then Kitto is a legitimate child as the cros
used to tell for sure that “the baby is not Yours”
s below reveals.
rather than the baby is yours”
4. Mama is a form six student with blood group
A. She recently has a baby whose father
she insisted was her fellow student Kashesha. Ka
shesha refused paternity and this
paternity case was taken to court where the follo
wing facts were established. Kashesha’s­mother
blood group A; Kashesha’s father blood group B.
Baby blood group O. Based on
this factor explain whether the law will accuse o
r excuse Kashesha.

Sex Limited and sex influenced characters:


Sex limited characters are those characters that a
re concerned to only one sex eg.
baldness, beards and Adam’s apple in males and
enlarged breasts and hips in females.
The development of such character is controlled
If John is homozygous for his blood group, then by sex hormones, they are thus said to
for sure, Kitto is an illegitimate child of be sex influenced characters.
the family.
PEDIGREE ANALYSIS
Pedigree is a sequential arrangement of individu
al in a given family to show the passage of
certain character from one generation to another.
In analyzing a pedigree the first individual to sho
w the characters of interest is called a
propositous

Features of a pedigree.
(i) Circles represent females, squares represent
males.
(ii) Shaded figures show a phenotypic expressio
n of the character, open figures represent a
normal phenotype.

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(iii) Parents are connected by a horizontal line as The dominance heredity achy is A > a > a which
children are connected to parents by means A is dominant to both a and a
vertical line. where a is dominant to a only.
A family tree for dogs showing their coat colours
is given below;
Worked examples
1. Study the pedigree shown below, circles re
present females, squares represent males,shaded
figures represent colour blindness, open figures
represent normal phenotype

(i) What is the probable genotype for 1?


(ii) What are the possible genotypes for 5 and 9?
(iii) If 8 marries a normal man, what are the cha
nce that she will have a colour blind son?

Answer:
Consider the following genetic attribute; 1. State the genotype of each of the individuals 1
X X – Normal female. –5
X X – Carrier female. 2. By means of genetic diagram deduce the possi
X X – Colour blind female. ble genotypes and phenotypes of the
X Y – Normal male. puppies which could be produced by mating bet
X Y­ Colour blind male. ween individual 4 and 6
(i) The possible genotype for 1 is X
X ie: homozygous normal. Answer:
(ii) The possible genotypes for, 5 is X (b) (i) Given dominance hierachy As > ay > at
X ie: heterozygous normal Phenotype: Possible genotypes
(iii) Since 8 was born from a certain mother, she Dark: A sAs, As ay ,As at
has 50% chance of receiving an allele for Tan: ay ay ,ay at
colour blindness. Spotted: atat
There are also 50% chances that the allele will p Thus, the genotypes are:
ass to the son. Individual Genotype
Thus, the chances of 8 to have a colour blind son 1 Asay
are: 2 Asat
½ x ½ x ½ = 1/8 3 ayay
4 atat
(a) State Mendel’s laws of inheritance.
5 ayat
(b) In dogs coat colour is determined by a series
Crossing between individual 4 and 6
of multiple alleles. The allele A produces a
uniformly dark coat, the allele a produces a tan
coat and the allele a produces a spotted coat.

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F2 phenotypes: Tortoise shell coat colour femal


e : black coat colour female : ginger
More examples: coat colour male : black coat colour male
1. In cats, the genes controlling the coat colour a 2. (a) Explain using appropriate genetic symbols,
re carried on the X chromosome and are the possible blood groups of children
codominant. A black coated female mated with a whose parents are both heterozygous, the father
ginger coat produced a litter consisting being blood group A and mother B.
of black male and tortoise shell female kittens. (b) If these parents have non – identical twins, w
What is the expected F2 phenotypic hat is the probability that both twins
ratio? Explain the results. will have blood group A?
Soln: Answer
Let B represent black coat colour. (a)Let: I represent the gene for blood group
G represent ginger coat colour. A Represent the allele A (equally dominant)
XX represent female cat. B Represent the allele B
XY represent male coat O represent the allele O (receive)
(b) There is a probability of ¼ (25%) that each c
hild will have blood group A. So the
probability that both will have blood group A is
¼ x ¼ = 1/16 (6.25%)

Colour female colour fe


male colour male colour male
(The parental female must be homozygous for bl
ack coat colour since this is the only
condition to produce a black coat phenotype)

GENE INTERACTION
In dihybrid crosses, two or more genes interact t
o determine a single phenotype. Such an
interaction may modify the basic ratios.
Examples of gene interaction are:
(a) Lethal genes.

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(b) Epistasis. Definition;


(c) Collaboration (Gene complex). Epistasis is the type of gene interaction in which
(d) Multiple gene interaction. one gene (epistatic gene) effect the
(e) Complementary genes. phenotype expression of the other (hypostatic ge
ne).
(a) Lethal genes.
A lethal gene is that dominant or recessive gene An example occurs in mice where three genes de
which when occur in the homozygous state termine the coat colour. However the
causes death to its bearer. eg : Sickle cell anaemi absence of a dominant allele at one of the loci re
a in humans. sults in no pigment being produced and the­coat
Lethal genes may affect several characteristics in being albino. This occurs regardless of the genes
cluding mortality. present at the other loci, even if these­produce n
Example ormal coat colour. The gene at third locus clearly
Consider the inheritance of fur colour in mice. suppresses the action of the others.
Wild mice have grey coloured fur, a conditionkn Example
own as agouti. Some mice have yellow fur. Cros In white leghorn fowl, plumage colour is contr
s breeding yellow mice produces offspri­ng­in th olled by two sets of genes, including thefollowin
e ratio 2 yellow fur : 1 agouti fur. These results c g: W (white) dominant over w (colour).
an only be explained on the basis that­yellow is B (black) dominant over b (brow
dominant to agouti and that all the yellow coat m n).
ice are heterozygous. The typical­Mendelin ratio The heterozygous F1 genotype WwBb is white.
is explained by the fetal death of homozygous y Account for this type of gene interaction and
ellow coat mice. show the phenotypic ratio of the F2 generation.
Explanation of this rests on the fact that examina
tion of the uteri of pregnant yellow mice­from th Answer.
e above crosses revealed dead yellow features. S Since both dominant alleles W, white and B, bla
imilar examination of the uteri of­crosses betwee ck are present in the heterozygous F1
n yellow fur and agouti fur mice revealed no dea genotype and the phenotype is white, it may be c
d yellow features. The­explanation is that this cr oncluded that the alleles show an epistatic
oss would not provide homozygous yellow (YY) interaction where the white allele represents the
mice. epistatic gene.
Let Y represent yellow fur (dominant). The F2 generation is shown below:­
y represent agouti fur (recessive) Using the symbols given in the question.
F1 phenotypes: White cock x
White hen
F1 genotypes: WwBb
WwBb
Gamete WB Wb wB
WB WWBB WWBb WwBB
Wb WWBb WWbb WwBb
wB WwBB WwBb wwBB
wb WwBb Wwbb wwBb

F2 phenotypes: 12 white colour


: 3 black colour : 1 brown colour
(Symbols)

Definition: Epistatic/Inhibiting gene are recessiv


e genes which when occur in a genotype it
NB: the ratio 2:1 talks of lethal. The gene for yel surfers the showing up of another gene.
low is dominant for fur colour of the cat, the­gen
otype Yy produce yellow cost but it is for viabili (c) Collaboration (complex gene/simple Gene I
ty. Hence gene YY represents lethal ntervention).
combination. Collaboration occurs when two genes controlling
the same character, interacts to
(b) Epistasis. produce a single character phenotype which neit
Epistasis arise when the allele of one gene suppr her could produce alone.
ess or marks the action of another.

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An example of each collaboration genes is seen i


n the inheritance of the shape of the
comb in domestic cowl (chicks).
One gene, P – produces a rose comb where as its
recessive allele, p produces a single
comb.
Another gene R produces a rose comb where as i
ts recessive allele, r also produces a
single comb.
When P and R occurs together (codominance), t
hey collaborate to produce a walnut
comb.Consider the case below:­

From the above cross, the F2 phenotype ratio is


Phenotype Possible genotype
9:7 instead of the normal 9:3:3:1. The last
Pea PPrr
threeorphenotype
Pprr classes have been combined.
rose PpRR or ppRr
single pprr
walnut PPRR, PPRr, PpRR,
(e) Polygenic PpRr (Multiple gene intera
inheritance
ction).
Consider the cross below:­ Multiple gene interaction (polygenic inheritance)
is a type of gene interaction in which a­single ch
aracter is controlled by a series of genes each ex
erting its effect on the present
phenotype in an additive fashion.
Many genes acting together are referred to as pol
ygenes.
Polygenes give rise to continuous variation.

VARIATION
Variations are differences among the individuals
of the same species.
Those variations which can be inherited are deter
mined by genes. These are called genetic or
inheritable variations.
Some variations are determined by the individua
l’s environment and are known as acquired­char
(d) Complementary genes.
acteristics. Acquired characteristics such as big
These are genes which are mutually dependent. muscles developed from training­and­exercise ar
Neither of them produces a given phenotype e not inherited. Inheritable variations may be cau
in the absence of the other.
sed by mutation or by new­combination of genes
in the zygote. Non inheritable variations arise an
Example
d disappear from a
­In sweet peas, purple colour of the flowers is c
species when the individuals die.
ontrolled by two genes C and P. In the­absence In genetics we are concerned with inheritable var
of either the flowers are white one gene (C) reg iations. Many variations are controlled by
ulates the production of raw materials for­form
genes. There are two types of inheritable phenot
ation of a purple pigment where as another gen
ypic variations.
e (P) regulates the conversion of raw materials
(i) Continuous variation and
into a purple pigment.
(ii) Discontinuous variation.
Consider a dihybid cross between a purple flowe Discontinuous Variation
red plant and a white flowered plant
This occurs when an organism must either have
or not have a certain character.
There is no gradual change between the two extr
eme. This case of variation produces

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organisms with a clear cut differences between t


hem and with no intermediate between them.Suc Origins of variation:
h characteristics include sex where an individual Variation may be due to,
is male or female, eye colour, blood (i) Environment effect e.g.: Diseases and Nutritio
group, finger prints, tongue rollers, non­tongue r nal standards.
ollers. For example: The action of sunlight on a light co
Characteristics showing discontinuous variation loured skin may result in it becoming
are usually controlled by one major gene darker. Such changes have little evolutionary sig
which may have two or more allelic forms. nificance as they are not passed from one
Discontinuous variation cannot be altered by env generation to the next.
ironment. For example you cannot change (ii) Genetic factors.
your blood group by altering your diet. These are much more important to evolution as t
hey are inherited. These genetic changes­may be
Continuous Variation the result of the normal and frequent reshuffling
Continuous variation occurs when every member of genes which occur during sexual
of species shows a certain characteristic but reproduction, or as a consequence of mutations.
not to the same extent. (iii) Reshuffling of genes:
Some examples of such characteristics are hand The sexual process in organisms has three inbuilt
span in humans, length of tail in other methods of creating variety.
animals, number of leaves per plant, body weigh  The mixing of two different parental genot
t and height of the people of the same age. ypes where cross­fertilization occurs(Fertili
These characteristics vary continuously in the po zation)
pulation.  The random distribution of chromosomes­d
Characteristics which show continuous variation uring metaphase I of meiosis (Independent
are controlled by the combining effect of a­numb assortment).
er of genes called polygenes and any character w  The crossing over between homologous chr
hich results from the interaction of omosomes during prophase I of meiosis.
many genes is called polygenic characters.
MUTATIONS AND DELETERIOUS GENES
Histograms Mutations are sudden unpredictable changes tha
t occur in the chromosome or genes and
they may alter the phenotype expression of an or
ganism.
In other words, mutations are defined as changes
in the amount or structure of DNA of
an organism as well as arrangement of DNA.
Mutation is a sudden inheritable change of the g
enotypes.

Significance of mutations
 Mutations are rare events because DNA an
d chromosomes are stable structures.When
they occur they provide a source of new var
Characteristic :
iability which is necessary fororganisms to
Environmen
adapt to constantly changing physical and b
tal influence:
iological environment.
One of the reasons for continuous variation is th
 Mutation is the only means by which new g
at all phenotypic characters are influenced by
enes arise there by acting as raw material fo
the effects of the environment.
r organic evolution.
Many continuously variable characteristics are af
fected by environment or by what happens­durin
NOTE: In diploid types the mutant gene, may be
g individual’s life time. For example a genotypic
dominant, receive or intermediate to
ally tall organism may be dwarfed by­not getting
its effect. The most common mutants are recess
enough food or balanced diet and therefore appe
ive.
ar similar to a child whose
Only mutations occurring in the gametic cell can
genotype is for shortness.
be inherited from one generation to
No character of any organism can be said to be c
another where as those mutations of the somatic
ompletely due to effects of heredity (nature),­or
cells are not inherited by the dominant
due to environment (nurture). Environment and
cells. These are thus called somatic mutations.
heredity always interact in producing the
phenotype.

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Qn: Why somatic (autosomal) mutations are no ase to convert an amino­acid tyrosine into
t inherited? melanin. Hence absence of pigment melani
n and hence development­of a light coloure
d skin (albinism).Albinism is caused by a r
Causes of mutations: ecessive allele (a) whose dominant allele (
The substances that cause mutation are called M A) produces normalskin colours pigment.
utagens or Mutagenic agents. The Consider a cross between two normal indiv
organism that has undergone mutation is called iduals producing an albino.Mutation occurs
Mutant. during meiosis where a chromosome/gene
The mutagenic substances thus include, may be Deleted, Duplicated,,inverted or su
1. Electromagnetic radiations such as X – rays, bstituted, in the presence of mutagens.
UV – radiations, ɤ­ ray etc.
2. High energy particles such as α – particles, β –
particles, cosmic particles.
3. Chemicals such as caffeine, formaldehyde, so
me constituents of tobacco, for
preservatives and pesticides.
4. Abrupt temperature changes.

Types of mutations:
 GENE MUTATIONS
This is a type of mutation in which the DNA stru
cture or chemistry of gene on a single­locus is ch
anged.­Since a single locus is affected then this t
ype of mutation is also called Point mutation.
In protein Biosynthesis, we saw that the genetic
code, which ultimately determines an
organism’s characteristics, is made up of a specif
ic sequence of nucleotide on the DNA
molecule. Any change to one or more of those n
ucleotides will produce the wrong
sequence of amino acids in the protein it makes.  Sickle cell anaemia:This is a bases substitu
This protein is often an enzyme, which­may hav tion type of gene mutation.It results into de
e a different molecular shape and be unable to ca velopment of an individual with abnormal
talyze its reaction. The results­will be that the en haemoglobin which causes­sickling of the r
d product of the reaction cannot be formed. This ed blood cells.
may have an effect to an organism. In sickle cell anaemia, the replacement of a
Gene mutations are not easily detected by the mi base in the DNA molecule results in the­wr
croscope and they can be passed over ong amino acid being incorporated into two
several generations without being expressed in t of the polypeptide chains which make up­t
he phenotype. he haemoglobin molecule. The abnormal h
aemoglobin makes the red blood cells to­be
Forms of gene mutation: come sickle – shaped, resulting in anemia a
1. Dedication – a portion of a nucleotide obtain nd possible death.The synthesis of normal h
becomes repeated. aemoglobin in the body is controlled by a p
2. Addition (insertion) – an extra nucleotide sequ air of gene with the
ence becomes inserted in the chain. genotype AA (HbAHbA ).The mutated gene
3. Deletion – a portion of the nucleotide chain is known as haemoglobin S (HbS
removed from the sequence. HbS ) is recessive and is the one which­caus
4. Inversion – a nucleotide sequence becomes se es sickle cell anaemia.­An individual with t
parated from the chain. he genotype HbAHbS­(heterozygous stickler,
5. Substitution – one of the nucleotide is replace a condition known as­sickle cell trait) has
d by another which has different organic base. no effect, rather the genotype gives an adva
ntage such as a genotype­produces normal
Example of gene mutations: shaped red blood cells: However, they are l
 Albinism:This is a type of gene mutation re ikely to lose their shape­when the tension o
sulting from base substitution in which the f O2 get lowered.­When plasmodium enter
correct bas­sequence is substituted for by in s such a cell, the tension of O2­in the cell ge
correct base sequence.The result of this sub t lowered­consequently the cell sickles up.­
stitution is the failure of the enzyme tyrosin These mis­shaped cells are cleared from the

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blood system by the spleen together with­t  Most of our domestic plants are polyploids
he parasites contained in them. In this way t producing large fruits, storage organ flower
he person is said to be resistant to Malaria­ s or leaves.
and the situation is referred to as heterozyg
ous advantage. Forms of polyploidy
There are two forms namely;
Sickle cell anaemia is characterized by the follo  Auto polyploidy.
wing features;  Allopolyploidy.
 Sickling of the red blood cells.
 Severe and eventually lethal anaemia as the  AUTO POLYPLOIDY
Hb is inefficient at carrying O2 . This condition may arise naturally or artificially
 Abnormal joint pains. as a result of an increase in number of
 Enlarged spleen. chromosomes within the same species.
 Resistance to Malaria for sickle cell trait.
 Blocked blood vessels depriving organs of Allopolyploidy:
O2 and permanently damaging. This condition arises when the chromosome num
ber in a sterile hybrid become doubled
and produces fertile hybrids.
F1 organisms are sterile as they cannot form ho
mologous chromosome pairs during
meiosis. This is called hybrid sterility. However,
the multiples of the original number of
chromosomes are fertile.

Changes in chromosome number (Aneuploidy)


Aneuploidy – A condition in which changes may
involve the loss or gain of single
chromosomes.In this condition, half the daughter
cells produced have an extra chromosome (n + 1)
,(2n + 1) etc, whilst the other half have a chromo
some missing (n – 1), (2n – 1) and so on.
Anaeuploidy arise from the failure of a pair of ch
 CHROMOSOME MUTATIONS romosomes to separate during gamete
These are results of changes in number or gross s formation. This may lead to formation of gamete
tructure of the chromosomes. Such cells containing more or few
mutations are called chromosomal abberations. chromosome. This is known as non­ disjunction.
Changes in whole sets of chromosomes­Someti Fusion of either of these gametes with a normal
mes organisms occur that have an additional wh haploid gamete produces a zygote with
ole sets of chromosomes.Instead of having haplo an odd number of chromosomes. They are usuall
id set in the sex cells and a diploid set in the cell y abnormal.
s, they have several­complete sets. This is know Non disjunction in gamete cell formation
n as polyploidy.
Where three sets of chromosomes are present, th
e organism is said to be triploid, with four
sets, it is said to be tetraploid (4n).
If gametes are produced which are diploid and th
ese self fertilizer, a tetraploid is produced. If­inst
ead the diploid gametes fuses with a normal hapl
oid gamete, a triploid results. Polyploidy­can als
o occur when whole sets of chromosome double
d after fertilization.Tetraploids have two complet
e sets of homologous chromosomes which can u
ndergo pairing­during gamete production in mei
osis. Triploids are thus sterile and hence propaga
tion by asexual means.

Significance of polyploidy:
 It is associated with advantageous features
eg: Increased size, hardiness and resistance
to disease. This is called hybrid vigour.

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It may occur during spermatogenesis or during o


ogenesis.

Symptoms:
 Infertility – sperm are never produced.
 Usually taller than average.
 Enlarged breasts.
 Enlarged hipbone.
 Very small testes.
 Low intelligency.
 Little facial hair.
 Smooth skin texture.
 Voice pitched higher than normal.

Treatment – Male hormones can be given. Breas


t then returns to normal size and the
condition is diagnosed only after puberty.

C.TURNER’S SYNDROME (XO)


This is a female genetic disorder in which there a
re only 45 chromosomes. Patients can
be described as incompletely developed females.
The sex constitution is said to be XO.

Symptoms:
Consequence of non­ disjunction in humans (  Infertility – ovaries as are absent.
Genetic disorders)  Small uterus.
A.DOWN’S SYNDROME (MONGOLISM):  Shortness of stature.
In this case 21 chromosome fails to segregate a  Broad chest with widely spaced nipples.
nd the gamete produced possesses  Under developed breasts.
chromosomes. The fusion of this gamete with a
normal one with 23 chromosomes results in­the Treatment:From the age of puberty, a woman is
offspring having 47 (2n + 1) chromosomes. This given female sex hormones to make female
leads to a presentation of three copies of­chrom develop breasts & have periods. Though this doe
osomes, a condition known as trisomy, hence do s not cure infertility.
wn syndrome is also known as trisomy21.
Explanation of Klinefelter’s syndrome and Tur
A Mongol is characterized by the following feat ner’s syndrome as a result
ure: (a) Non – disjunction of the father’s sex chro
 Big head, protruding tongue, flat facial feat mosomes
ures, puffy eyes, mental retardation, sterilit
y and short life expectancy.
 Non disjunction in the case of Down’s synd
rome appears in the production of ova rathe
r than sperm.
 The chances to have a mongol child increas
es with an increased age of the mother. At­t
he teenage, the chance is one in many thous
ands at age of 40 – 45, the chances are 35%
and above.

B.KILINEFELTER’S SYNDROME (IN FEMI


NIZED MALES)
This is a male genetic disorder in which the victi
m has got 47 (2n + 1) chromosomes instead­of 4
6.­It is due to an extra X chromosome. The genot
ype is therefore XXY instead of normal
XY. It is like Mongolism, an example of trisomy
.

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Changes in the chromosome structure


There are four types:
1. Deletion – a portion of a chromosome is lost.
As it involves the loss of genes, it can
have a significant effect on an organism’s develo
pment, often proving lethal.
2. Inversion – a portion of chromosome become
deleted, but becomes reattached in an
inverted position. The sequence of genes on this
portion is reversed and therefore the
phonotype is changed although the overall genot
ype is unchanged.
This indicates that the sequence of genes on the
chromosome is important.
3. Translocation – a portion of chromosome bec
omes deleted and rejoins at a different
point on the same chromosome or with a differe
nt chromosome.
4. Duplication – a portion of chromosome is dou
bled resulting in repetition of a gene
sequence.

GENETIC ENGINEERING (RECOMBINAN


T DNA TECHNOLOGY)
Genetic engineering or recombinant DNA techn
(b) Non – disjunction of the mother’s sex chro ology is defined as the
mosomes manipulation of DNA of one organism (donor) a
nd its transfer into another organism (thehost) w
here its combines with that of the host organism.

Where it combines with that of the host organis


m?
To create as new gene combination, genetic engi
neers must be able to
1. Located a specific gene in the donor cell.
2. Modify the donor DNA in a highly selective
way.
3. Isolate the located gene.

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4. Transfer the modified DNA into the host cell i


n such away the gene will be expressed
strongly enough to be practical use.

TECHNIQUES USED TO MANIPULATE DN


A
The manipulation of DNA involves three techniq
ues each of which uses specific enzymeor group
of enzymes.The molecules to modify DNA (the
enzyme used) are;
1. Reverse transcriptase:This catalyses the synth
esis of DNA from RNA.
2. Restriction endonucleases:These are used to c
ut DNA at specific sections.
3. DNA Ligase This joins the donor and vector D
NA section so as to form a recombinant DNA
molecule.

The techniques of recombinant DNA technolog


y are:­
1. Splitting the DNA molecule into smaller porti
ons using restriction endonuclear
which are specific to particular base sequences
on the DNA.
2. Copying the required DNA section using the
enzyme reverse transcriptase which
controls the synthesis of DNA from the RNA. The
resulting DNA is called copy or
complementary DNA (cDNA).
3. Adding the gene the vector DNA.
4. Formation of recombinant DNA molecule with
vector.
5. Joining the DNA portions together using DN
A ligase enzyme.

Illustration: Consider the diagram below showin


g the synthesis of insulin

SUMMARY
 A section of DNA, extracted from an organ
ism or synthesized artificially, is usually­tra
nslocated to a bacterium or virus. The bacte
rium or virus used in genetic engineering­is
called transgenics. Inside the bacterial cell
is a structure called plasmid.
 The plasmid is split open by some enzymes
called restriction endonucleases so as to­all
ow the foreign DNA to enter.­A given restr
iction enzyme cuts the bacterial plasmid op
en at specific sites where is­determined by t
he sequence of base in that region. This sa
me enzyme cuts foreign DNA­wherever an
identical base sequence occurs.This proced
ure of splitting open the bacterial plasmid a
nd inserting the foreign DNA is
called gene splicing.
 The foreign DNA and the plasmid join up,
and so the foreign DNA gets incorporated­i

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nto the plasmid. The enzyme DNA ligase is problems of theunborn baby.­It includes th
responsible for joining the foreign DNA e detection of genetic disease. If such a dise
and plasmid. The result of the combination ase is detected, it is usually­possible to pro
is called recombinant DNA. vide counseling about the quality of life the
The foreign DNA replicates along with the child can expect and other­potential proble
rest of the plasmid every time the bacterial ms. The parents are usually also given the o
cell divides. ption to abort.
The bacterium is selected because it replica  Carrier diagnosis:This is the identification
tes quickly and the offsprings resemble of people who carry a particular genetic dis
parents. ease, usually with
 Once the bacterium has taken up a piece of no visible symptoms or harm to themselves
foreign DNA successfully, it may divide­re .
peatedly into a population of bacterial cell a  Predictive diagnosis:This is the prediction
ll of which contain replicas the foreign­DN of a future disease which you are likely to s
A.­This production of large quantities of id uffer as a result of yourgenes but not yet pr
entical genes by means of genetic engineeri oduced any symptoms.
ng is­called gene cloning. This technology i
s currently being used in production of hum APPLICATION OF GENETIC ENGINEERIN
an insulin to save diabetes. G:

MERITS AND DEMERITS OF GENETIC EN A.Medicine:


GINEERING  The gene in man that codes for insulin is tra
nsferred in the bacterium, Escheriachia coli
Merits of genetic engineering to produce pure insulin in large quantities.
 Synthesis of hormones such as insulin, gro  Human growth hormone, somatotrophic ho
wth hormones etc. rmone can be extracted from the pituitary
 Production of vaccine and antibiotics. Alre glands of dead bodies.
ady interferon has been synthesized bygene  Blood clothing factors such as fibrinogen n
tic engineering. eeded by haemophiliacs are produced.
 Increases plant resistance to pests eg: cotto  Vaccines are produced from viruses.
n and potatoes.
 Improves quality and quantity of animal pr B.Biological Warfare:
oducts such as milk.  Micro – organisms that cause diseases have
 It offers endless opportunities to manipulat been used in wars.
e DNA. The micro organisms are cloned and throw
n into the territory of the enzyme.
Demerits of genetic engineering Infections of this bacteria (micro­organism)
 The materials contained in the manipulated causes death within few days.
DNA, are likely to undergo mutation.
 The use of genetic engineering in the manu C..Agriculture;
facture of biological weapons is a mis­appli  Research is being done to produce plants th
cation of genetics. at are capable of fixing nitrogen withoutrel
 The use of GMO’s for human consumption ying on nitrogen fixing bacteria.
is dangerous as it increases cancer chances.  Genetically modified organisms are used to
Some practices of Genetic engineering may break down wastes from homes and
not be in line with ethical and moral values industries.
.  Frozen embryos may be separated into cells,
which can be made to grow into new
GENETIC SCREENING AND PARENTAL DI embryos if implanted into the uterus.
AGNOSIS:  Some plants such as pyrethrum are being p
Genetic screening is the detection of mutant gen ropagated through tissue culture.
es in an individual.
There are three situations where genetic screenin D.Plant and animal breeding:
g is of particular relevance namely;­  It has been observed that crossing two gene
 Prenatal diagnosis. tically dissimilar organisms of the same­spe
 Carrier diagnosis. cies produces organisms that possess benefi
 Predictive diagnosis. cial characteristics not shown by either of
the parents.
 Prenatal diagnosis:This is the use of mode  The individual that results from crossing tw
rn medical techniques to identify any health o individuals with contrasting characters is­

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called a hybrid. In cattle, milk production,


quick maturation and beef production can b
e obtained through hybridization.
For example: The Hereford, English breed
shows high beef production and quick
maturation.The Boran from Tanzania show
s disease resistance and grows on dry pastu
re.A cross between the Herefore bull and a
Boran cow produces a hybrid of all these
qualities.

E.Blood transfusion:
 Blood transfusion is the transfer of blood fr
om one person, the donor, into the stream o
f another person, the recipient.
 Before blood transfusion, blood is tested to
determine the blood group and Rhesus­fact
or. If the blood of the donor is not compatib
le with the blood of the recipient,agglutinati
on occurs.
 The ABO blood group system and the Rhes
us antigens are used to settle parentage
disputes.

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