Ch.3 Genetics - Some Basic Fundamentals
Ch.3 Genetics - Some Basic Fundamentals
22
CONCISEBIOI-O(D - S
The same is true for animals also. We keep pets,
successfullyintroduced in certain bacteria which have
produce it. like dog or cat and domesticate animals, like cow or
been made to buffalo. There are so many breeds of each one of them
Genetic counselling is yet another practical aspect. and even in the same breed, there are minor
Newlymarried couples are advised to consult a specialist differences and variations among individuals.
regardingthe possibilities of any undesirable trait which
their children might inherit. Diseases like haemophilia CHARACTER AND TRAITS
(bleede?sdisease with a tendency to bleed freely from Any inheritable feature of an organism is a character.
even a slight wound), thalassaemia and sickle cell The alternativeforms of a character are called traits.
anaernia vcith defective haemoglobin are examples of
geneticdiseaseswhich can be prevented to some extent INHERITANCE IN HUMANS
by proper genetic matching of the prospective parents. We inherit thousands of characters from our parents
(father and mother) who in turn, had inherited them from
Heredity their parents. Thus the family members— brothers, sisters,
cousins—tendto resembleone another.Here is a list of
The term heredity may be defined as "transmission some such characters and their traits •
of geneticallybased characteristics from parents Character Traits
to offspring", or "the genetic constitution of an 1. Colour of the eyes Brown or blue
individuall
2. Hair shape Curly or straight
3. Eyebrows Heavy, bushy or thin
Like Begets Like
4. Hair on the middle Growth or no growth
It meansthat young ones look like their parents. joint of fingers
5. Colour vision Normal or red-green colour
Catsproduce cats and not dogs. blindness
A mango seed germinates into a mango tree. 6. Tongue rolling Rolling of tongue into U-shape
when extended out from the
• Humans give birth only to humans and not to apes. mouth or no rolling
Even the curd bacteria which grow in milk 7. Hand use Right-handedness or left-
undergo hundreds of generations each day, and handedness
continue to produce the same type of bacteria 8. Skin colour Albinism (total absence of
and not of any different type. pigment in skin) or normal
(light or dark) pigment.
Like begets like and yet there are variations 9. Ear lobe Free or attached
All organisms —whether animals, plants or 10. Lips Thick or thin
microorganisms,produce their own kind through 11.Rh Blood group Rh positive or Rh negative.
reproduction. But the offsprings are never identical
to their parents; some difference, howsoever small it
maybe, is found in them.
Check
PWogress
3.2 VARIATIONS IN POPULATION
q 1. Mention if the following statements are True
Human beings as a species share many main (T) or False (F) :
charactersor traits among themselves which identify (i) Genetics and heredityare the same thing.
the species Homo sapiens. Yet, the various races or
tribes look different in several features. Even within (ii) "Like begets like", this applies only to
the same race or tribe, the individual members in animals.
the population show differences. Further, within a (iii) The entire human population shows
variations.
family,members show differences in body features. 2. Which of the following in humans are
Thesesmall differences among the individuals of the established genetic traits ? (Tick-mark the
same species are called variations. correct ones) in the box provided.
11 12
17
21 22
CHROMAtlt)3
COM •j.sv.BJOLOGY-X
Autosomes are the kind of chromosomeswhich
determine general body featues like complexion,
height, seed colour, etc. Humans have 22 pairs of Progress Check
autosomes. sex chromosomes (also called as
allosomes)are the kind of chromosomes that 1. Mention the following
determine the sex of an organism. Every human has (i) Total numberof pairs of chromosomesin
only I pair of sex chromosomes. each body cell in humans..............
(ii) Number of pairs of autosomes in humans. ....
3.5 SEX DETERMINATION — SON OR 2. A certain couple got only four daughters in a
DAUGHTER row and no son. Does it mean that the husband
does not produce Y-bearing sperms? Explain.
The sex of the child depends upon the kind of
sperm that fertilises the egg. The egg contains only but these are the result of the units called genes which
one X chromosome, but half of the sperms released the chromosomes carry. The lion and the cat have the
into the genital tract of the female during coitus are same number of chromosomes (38) yet one is distinct
X-bearing and the remaining half are Y-bearing. It is from the other in body size, appearance, colour,
simply a matter of chance as to which type of sperm behaviour, etc. All such characteristics of an organism
fuses with the ovum : are the result of the genes located on the chromosomes.
If the egg (X) is fused by X-bearingsperm, the The word "gene" was coined by geneticist Mhlhelm
resulting combination is XX, i.e. female constitution Johanssen in 1909 to simply describe what parents passed
and the child produced is a female (Daughter). to their offspring,the detailed DNA structure came to
If the egg (X) is fused by Y-bearing sperm, the knowledge much later.
resulting combination is XY, i.e. male
constitution and the child produced is a male (Son). GENES AND GENOME
GENESare the specific parts (DNA segments) of a
3.6 CHROMOSOMES — CARRIERS OF chromosome, which determine the hereditary characteristics.
GENES • According to the latest findings there are nearly 19,000 genes
All species have a fixed number of chromosomes. in humans. ChromosomeNo. I has the largestnumber of
However, the characteristics of species including genes (2968) and chromosome Y has the fewest (231).
• GENOMEis the full complement of DNA (including all
physical appearance, body functions, behaviour, etc.,
genes and the intergenic regions) of an organism.
are not simply the outcome of chromosome number,
Son or Daughter?
male (So far only a matterof chance) Degenerates
female
cell in testis 8)
XY cell in ovary
sperms meiosis
meiosis
egg
Z ote Daughter
each egg has
sperms Son X chromosome
gote
All eggs are alike (each with one X-chromosome), but sperms are either with X- or with Y-chromosome (50% of each
kind).The type of sperm that fertilises the egg determines whether the child will be male or female.
-
COSCLSL
3.9 FROM PARENTS TO CHILDREN parent through the sex cells. The situation can
TONGUE ROLLING AN EXAMPLE OF be schematically explained as given in a Punnett
INHERITANCE square (Fig. 3.5).
Fig. 3.4 illustrates a family chart of two parents
Punnett square is a simple diagram in which the
and their three children, again illustrating the trait different types of gametes (sex cells with the
of tongue rolling. concerned trait) of one (female) parent are placed
along one side of the square and those of the other
parent (male) are placed along the other side. Then,
the possible combinations (genotypes) of the opposite
gametes are given in the sub-squares. The resulting
Roller
Roller phenotypes can be writtenunder the genotypes.
wist watch on
Vost people wear the
few on right hand.
left hand and onty very
Is it true ?
genetics.
Something to do with human
the knob
(Hint : Interpretthe position of
related
of the wist watch and the
human genetic trait).
-X
28 CONCISE BIOLOGY
3.10 SEX-LINKED INHERITANCE
CASE 1
Sex-linkedinheritanceis the appearanceof a trait
whichis due to the presence of an allele exclusively Heterozygous
either on the X chromosome or on the Y Colour-blind
chromosome. mother x0Y
father
Colour-blind father (X OY)
Sperms (two types)
'X' linked inheritance :
xo
Certain disorders caused due to heredity such
as xxo XY
haemophilia and colour-blindness are more Carrier daughter Normal son
common in males than in females. Such defects are
due to recessive genes, which occur on the 'X' xxo XY
chromosome. Colour blindess is an inherited disease o W
z Carrier daughter Normal son
due to which affected individuals cannot differentiate : Daughters - heterozygous dominant, normal vision
between certain colours, mostly red and green. (You XY : Normal sons
can check if you are normal or colour blind by None of the children is colour-blind but daughters
readingthe numbers given in the three coloured are carriers (XXO) of the defective allele for colour-
circles in the chapter 'Sense Organs'. If you can see blindness.
them, you are normal otherwise colour blind as in
fourth circle). CASE 2
Haemophilia is a genetic disorder in which the Carrier mother
Normal
(not colour-blind) xx0 and XY
sufferers (homozygous recessive female and the father
recessiveX-bearing male) are at a risk of bleeding to Normalfather(XY)
death because the blood fails to clot in them. Rare Sperms (two types)
x
casesof haemophiliac males do occur but practically
none of haemophiliac females. x xo xox XOY
Carrier daughter Colour-blind son
The following cases explain the sex-linked o
(X-chromosome linked) inheritance of colour-
blindness (or haemophilia) in humans. Normal daughter Normal son
CRISS-CROSS INHERITANCE
(Motherto Son and Father to daughter) CASE 3
Inheritance of X-Iinked genes as in colour Think of a possibilityof a marriage between
blindnessand haemophiliais also called criss-cross carrier woman (XXO) and a colour blind man
inheritance. This is (XOY). Is there a possibility of the birth of a colour
because the son may get
it from the otherwise blind daughter ? Work out the progeny in the
normal but carrier mother Female Male following Punnett square.
(as in case 2) and a Colour-blindman (X OY)
colour blind father may MOTHER FATHER
sperms (two types)
pass it on to the daughter 8
making her colour-blind if
the mother is a carrier. Daughter: Son
(Refer to case 3, if you 0
have solved it.)
INHERITANCE Inflated
co
30 -
BIOLOGY
CONCISE
'ssith axillary flowers and plants with terminal Pure tar Dwarf
in the ratio of 3 : l. These were the visible Parents TTxtt
forms which we call the phenotypes. Out of these,
the one with terminal flowers (aa) in subsequent
Tt (Hybridtall) an Tt
Iself-pollinated) generation produced all plants with
kerminalflowers only. Out of the other remaining
•three axillary flowers :
t
One (AA) produced all plants with axillary
flowers only tt e-Genotyperatio
TT Tt Tt
Two (Aa) again produced in the same ratio 3 : 1 Pure Hybrid Hybrid Dwarf
tall tall tall
e Phenotypic
ratk»
as was in F2 generation.
Terminal flowers (aa) Axillary flowers (AA) CASE 3 : Similarly,on crossingthe plants grown
from pure round (RR) seeds with plants grown from
PARENTS pure wrinkled (rr) seeds, the results were as given
a
below :
CROSS- Pollen Ovule
POLLINATION . grain Malo gametes
Parents
All Axillary
Fl (HYBRID) .... flowers (Aa)
Round Round
Round Round
This kind of ratio obtained by crossing for two In all the above three cases, the monohybrid
different traits of a single character is known as
ratios are same:
monohybrid ratio. This consisted of the following:
Phenotypic ratio 3 : 1;
Phenotypic (visiblefeature) ratio = 3 : 1 (three axillary Genotypicratio 1 : 2 1
and one terminal)
Some of the generalizædprinciples based on thc
Genotypic (gene feature) ratio
above breeding experiments were as follows :
two Aa and one aa)
1. Each pair of contrasting characters depends on
CASE 2 : Pure tall (TT) pea plants were crossed
a pair of genes.
with dwarf (tt) plants and the progeniesin the Fl
and F, generation were obtained as follows : 2. Each individual carries such genes in duplicate,
31)
h only one of
jn J/ W'tu•r.itiotj
the ratio —
Genotypic ratio —
Sex with to the they
jct "t Jiljeno'ypic ratio
l)ihybrid rot io the with Genotypic ratio (very cojnplcz)
two o/ ten,
Mendel tried ()jiC 3.12 MENDEL'S LAWS OF INHERITANCE
eon'biii0t ion the crossing of/i variety With round
Mendel"' gcncraJi'/,afion%of the results of breeding
and yellow seccl%with another variety
expcrijncnt%are under three Jaws:
wrinlcicd nnd green
j, Law of J)oniinancc• : 0/11of a pair of contrasting
Round, Yellow Wrinkjod, Groon c/laractcrs present together, only one is able to
express itself while the other remains suppressed,
Round, Yellow
'l ilie one that is the dominant character
Round. Hound, Wrinkled, Wrinkled, and the one unexpressed is the recessive, The
Yellow Groen Yellow Groon recessive character can express only when the
9/10 0/16 3/16 pair consists of both recessives (homozygous
recessive).
The ratio is 9: 3: 3: 1, 2, Law of Segregation (also called tliC law Of purity
Thc above results Cronjparents to F, and then to of gajnetc%): The two members of a pair of
can be easily understood froni the following : factors separate during the formation of gametes.
'I'hey do not blend but segregate or separate into
different garnetes (see Fig. IA). The gametes
combine together by random fusion at the time
of zygote formation.
Hound, yollow Wrinklod, groon
00000(HHYY) ooodo (ryy) 3, Law of Independent Assortment : When there
arc two pairs of characters, the distribution of the
F, gonotation alleles of one character into the gametes is
round, yojlow independent of the distribution of the alleles ofthe
000ds (RcYy) other character (as is seen in the production of
romalo 00/ collo
gametes of the Fj hybrid in clihybrid cross).
Q) Application of Mendel's laws
(i) A knowledge of the basic Mendelian principles
Phonotypic ratio
obtainod
gives us an idea about the new combinations
9/16 aro round, yollow in the progeny of hybrids and enables us to
3/16 aro round, groon predict their frequency.
rrYY try 3/16 aro wrinkled, yollow
1/10 aro wrinklod. groon (ii) Such information is of great importance to
both plant and animal breeders for producing
better breeds.
tt WHEN SELFED,
THE DWARF
PLANTS OF THE
Progress Check
SECOND
1
GENERATION
PRODUCE ONLY
1. Who discovered for the first time the basic
DWARF PLANTS principles of genetics?
2. Give the common and scientific names of the
organism on which Gregor Mendel had
worked.
3. Define the following terms .
(i) Monohybrid cross
(ii) Dihybrid cross
(iii) Filial generation
4. Write two characters of pea pod with thier
alternative traits.