Reproductive Biology Bio 105: Dr.

Jorge Trejo

Genetics Evolution and Principles of Classification:

Information here is a review of previous content covered in Cell Biology - Students are encouraged to
review this information.

Patterns of inheritance

Meiosis is referred to as reduction division. The chromosome no is halved from the diploid (2N) to the
haploid (n)

The phase are similar to mitosis especially in the movement of the chromosomes (i.e. in Meiosis II)

However as indicated there are two cycle in this type of division (Meiosis I and Meiosis II)

Homologous chromosomes pair up  synapsis

Each pair is called a  bivalent

The key aspect of Meiosis is Prophase I where Chiasmata formation occurs (Chiasma). Here there is the
exchange of genetic material between maternal and paternal chromosomes. Site exchange between the
chromatids

It is referred to as Crossing Over

Insert Crossing Over Diagram

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 Reproductive Biology Bio 105: Dr. Jorge Trejo

Students must review genetic terms used for the purpose of inheritance.

From genes to alleles to the F2 generation; see definition in the text book

Gene – is the basic unit of inheritance

Allele- is the alternative form of a gene responsible to determine contrasting characteristics (Aa)

Locus- position of an allele within a DNA molecule

Homozygous- diploid condition in w/c alleles at a given locus are identical (AA)

Heterozygous- diploid condition in w/c alleles at a given locus are different (Aa)

(Make mention of dominant and recessive genes)

MENDELIAN GENETICS:
Introduction to Gregor Mendel (Discuss with students his role as a scientist and his immortal
contribution to Genetics)

MENDEL’s MONOHYBRID CROSS

Used Pea plants; observed a variety of traits for instance

AXIAL and Terminal flowers (Distinguishing)

Axial – flowers distributed along the stem and Terminal – flowers distributed at the tip of the stem

Axial produced Axial and Terminal  terminal; Mendel knew then that he was dealing with pure bred
plants. These plants only showed only a single pair of characteristics

He now decides to cross the pure bred plants (Hybridization). The F2 plants now appear with a different
result

Note; Technique was to remove the anthers from several plants to avoid self-fertilization

Promotes Cross fertilization by placing the pollen from a designated male to the female variety

Using a brush. Enclosed the experimental flowers to prevent fertilization from another plant

This is now referred to as the First Filial Generation F1

No terminal plants were produced in this generation

F1 x F1  allowed to self-pollinate giving rise to the 2nd generation  now called the F2. In the F2 both
Axial and Terminal flowers appeared

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Terminal plants failed to show in the F1 but showed up in the F2. F1 plants and the condition was now
referred to as being recessive traits

Here is the result according to the crosses Pure Bred Plants

Mendel’s Conclusions:

1. Pure breeding stocks are to be considered as TT axial and tt as terminal (note two factors)
2. F2 has a factor of each (carried in the gametes)
3. They do not blend in the F1, but maintain their individuality
4. Axial  Dominant : Terminal  Recessive

Separation that allowed factor to be in present in each gamete points to the first law in genetics

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MENDEL’s first law

The Principle of Segregation

It states: The characteristics of an organism are determined by internal factors which occur in pairs

 Only one of a pair of such factors can be represented in a single gamete

 These factors determining characteristics are  Genes (located on different regions of the
chromosome
 Here we observe only one pair of contrasting characteristics.

Diagrams; setting up the genetic crosses will be important

Mendel’s conclusion of the transfer of a single characteristic by each gamete and the new genotype
appearance can be expressed or demonstrated by Mathematical Probability

The Test Cross is usually used to determine the genotypes of the parents; as there can be two
possibilities which can only be determined from the results of the Cross

A_  AA or Aa ; where ____ can be substituted by A or a. Homozygous Dominant parent or

Heterozygous dominant parent.

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Note the cross can only be effective using the homozygous recessive condition to test
For the parents.

The ratio obtain for the AA  all in the hybrid dominant character
The ration obtain for the Aa  provides a ratio of 1:1

A classic example that students are asked to review would be the test cross done for Drosophila
melanogaster (fruit fly) for long (LL) and vestigial wings (II)

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MENDEL’s DIHYBRID CROSS

Mendel interested in working with two pairs of contrasting characteristics of the pea plant

Pea Shape (Round or Wrinkled) Pea Colour (Yellow or Green)

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Proportion of each phenotype gave the characteristic ration known as the 9:3:3:1

Mendel’s Deductions:

1. Alleles separate independently

2. Combinations may differ

LAW States: Any one pair of characteristics may combine with either one of another pair

Note the 9:3:3:1 ratio is typical for example for characteristics controlled by genes found on different
chromosomes  Independent Assortment Occurs

However as mentioned below if the characteristics is controlled by genes found on the same
chromosome then Linkage occurs; there is no Independent Assortment

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 Reproductive Biology Bio 105: Dr. Jorge Trejo

Students must review a summary of Mendel’s hypothesis (1-6)

Students must read the Chromosomal Basis of inheritance

Here there is evidence suggested by Sutton and Boveri  proposed that chromosomes were the
carriers of Mendel’s factors

The factors as stated by Mendel is now replaced with the Gene

Chromosomal explanation of Independent Assortment

Movement of Chromosomes during Meiosis

Random Alignments or assortment of Homologous chromosomes on the equatorial spindle during

Metaphase I

And subsequent separation during Metaphase I and Anaphase I that leads to the variety of allele
combinations in the gamete cells.

 Predicting the no. possible allele combinations in either the male or female gamete using the general
formula

2n, where n = Haploid number of chromosomes; for humans it would be n = 23 (haploid number)

Therefore the possible number of different combinations would be

223 = 8 388 608

Students are to do Question 23.1, 23.2 and 23.3 T; is to be reviewed in class.

Linkage occurring:
So far all the examples that we have been observing would be for genes that are located on separate
chromosomes.

However, this is not necessarily the case; Humans  46 chromosomes in all somatic (body cells)

From eye colour hair colour and blood groups; chromosomes carry a large quantity of genes

Genes situated on the same chromosomes are now going to be referred to as link Linked and all the
genes found in the same single chromosome will be referred to as a ‘Linkage Group’

They will usually pass into the same gamete and will therefore be inherited together. If they are linked
then they do not exhibit independent Assortment

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Hence failing to produce the expected ratio by Mendel; in this case a dihybrid cross 9:3:3:1 for two pairs
of contrasting characteristics.

As a result a variety of different ratios may be obtained

As luck would have it Mendel was fortunate to choose genes that were located on separate
chromosomes so he never had to deal with the complexity of linkage.

Let’s use Drosophila to explain. Consider Body Colour and wing length

Let G represent Grey Body (Dominant)

g represent Black Body (recessive)
N represent Long wing (Dominant)
n represent vestigial wings (recessive)

Here they are all Heterozygous for Grey Body colour and normal wings

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The results indicate that 3 grey body normal wings are obtained: 1 black body vestigial wing

Note: the alleles for grey and long wings are located on the same chromosome

However in reality, though this 3:1 ratio is never achieved and 4 phenotypes are invariably produced.

Why it is so is because Total Linkage is rare.

Most linkage breeding experiments will usually produce equal number of phenotypes and a significantly
smaller number of phenotypes showing new gene combinations of characteristics, also in equal number.

The latter phenotypes are referred to as RECOMBINANTS

Definition for linkage; two or more genes are said to be linked when phenotypes with new gene
combinations (recombinants) occur less frequently that the parental phenotypes

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Crossing Over and Cross-Over Values

Return to prophase I of meiosis

Crossing over results as a result of the breakage and recombination of homologous chromosomes during
chiasmata

It has been microscopically observed and it is now known that it occurs for the majority of homologous
chromosomes during meiosis.

Here the result is genetic recombination and offspring formed here are referred to as recombinants as
mentioned previously

Consider the following for recombination frequency

Recombination Frequency (%) = X/Y x 100%

Where X = recombinant genotypes

Y = the total number of genotypes

Use the Test cross to understand Linkage when it occurs; according to the results or the ratio obtained

If the four alleles were situated on different parts of the chromosome the result would be a
1:1:1:1 result

Test cross phenotypes grey body normal wing (heterozygous) X black body vestigial wing

Genotypes GgLI X ggll

Results in

F GL GI gL gl

gl GgLI GgII ggLI ggII

Offspring phenotypes: 1 grey body, normal wing: 1 grey body, vestigial wing: 1 black body, normal wing:
1 black body vestigial wing

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This is the result if the four alleles are situated on the same pair of chromosomes

Evaluating Genetic Data and Chi-Square Analysis

Monohybrid cross  3:1 ratio obtained

Dihybrid cross  9:3:3:1 ratio obtained

These are hypothetical based on

1. Dominance/Recessiveness
2. Segregation
3. Independent Assortment
4. Random Fertilization

Follow Hand-out here on Chi-square Analysis

SEX DETERMINATION
Homologous chromosomes found in all cells but the chromosomes that determine sex are not the same
and show differences

 Sex chromosomes -----Heterosomes X and Y XX (homogametic) and XY (Heterogametic)

One X chromosome may appear in an active state and has a normal appearance

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The other will appear in a resting state and will be tightly coiled and stains as a dark staining body known
as a ‘BARR BODY’

The # of Barr Body us always less than the number of X chromosomes present

Male (XY) = 0 and Female (XX) = 1

Y function are according to specie

 Y in humans controls differentiation in the Testis and subsequent development of the genitals
 In some organisms it does not carry genes concerned with sex  genetically inert or empty

In drosophila

 All other chromosomes-----Autosomes

Interestingly for some organisms like the grasshopper there is no Y chromosome and so it is represented
as (XO)

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Morgan’s Experiments and Sex Linkage in Drosophila

R = Red (Dominant)
R = white (recessive)
XX = Female fly
XY = male fly

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From the experiment he concluded that only the X chromosome carries the gene for eye colour
 There is no gene locus for eye-colour on the Y chromosome
(The non-homologous drawing of the chromosome can be used to explain why the recessive change has
an opportunity to express it self
 This explains special types of linkage in inheritance  Sex-linked traits red-green colour blindness;
premature balding and haemophilia

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Haemophilia: Bleeders Disease is also known as a Sex-Linked recessive condition which prevents the
formation of factor VIII, and important factor necessary for the increase in blood clotting.

This gene for factor VIII is carried on the non-homologous portion of the X chromosome and can appear
in allelomorphic forms as seen below.

Examples  Observe the following cross as it is necessary to look at the possibilities of the offspring
depend on the genotypes of the parents.

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Gene Interactions
Genes interacting in ways other than those already mentioned (monohybrid, dihybrid, sex-linked). These
are as follows

 Codominance
 Multiple alleles (Blood Groups)
 Lethal genes
 Gene complex
 Epistasis

Codominance:
This is the situation where two or more alleles do not express dominance or recessiveness due to failure
of any allele to be dominant in the heterozygous condition.

Codominance occurs in both plants and animals

Example; Andalusian fowl figure 24.24

Here there are no accepted genetic genotype symbols for alleles showing codominance (as has been
seen in other genetic crosses)

 Observe the following examples with flowers and the checkered chickens

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Multiple Alleles (blood Groups)

Cases observed so far  characteristics can be controlled by a gene which may appear in one or two
forms of alleles

However, here for multiple alleles  a single characteristic may appear in several different forms
controlled by three or more alleles

Of which two may occupy the same gene loci on homologous chromosomes

 Multiple alleles (or multiple allelomorphs)

Controls characteristics such as coat colour in mice, eye colour in mice and BLOOD GROUPS in Humans

Observe the following examples

Note: the gene locus is represented by the symbol I (which stands for isohaemoglutinogen)

The three alleles are represented by the symbol A B O

A and B are equally dominant, but O is considered as recessive to both genotypes

Note: Blood contains (Agglutinin- Antibody) read to understand the blood group reaction.

Observe the following crosses

Also use different cross to determine the result  important as a blood donor and of course for
Paternity testing  used in court cases as well  Milk and Pampers and you are the father

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Observe the blood type and Genotypes in the following table below.

Lethal Genes
 A single gene affects a phenotypic characteristic  Mortality
 Mammals  adhesion of lungs resulting in death at birth
 Cartilage  formation of cartilage and produces congenital deformities leading to fetal and
neonatal death
 Fur colour in mice (YY)

Observe the following cross:

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Gene complex

Here a single characteristic is controlled by the interaction of two or more genes situated on different
loci

Classic example  inheritance of comb shape in domestic fowl  four distinct phenotypes observed

 Pea
 Rose
 Walnut
 Single comb

Pea and Rose Comb are dominant and are represented as P  Pea and R  Rose

Walnut arises through a special type of codominance (at least one allele for Pea and Comb are present)

Single appear only in the homozygous double recessive condition (pprr)

Observe the following crosses

Q. 17. In chicken the dominant gene R gives rose comb and

the dominant gene P gives pea comb. When P and R are
present together the comb form is walnut. The homozygous
recessives of P and R produce single comb. Determine the
comb form of the offspring of the following crosses:-

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Epistasis:
A gene in its presence suppresses the effect of a gene at another locus (Epi; OVER)

 Referred to as inhibiting genes

 Effect is hypostatic
 Classic example is fur colour in mice
 Two alleles coloured (dominant) albino (white)  recessive

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The hypostatic gene determines the nature of the colour and its alleles are

 Agouti (dominant)
 Black (recessive)

The mice may be agouti or black fur depending upon the genotypes, but it is only so if accompanied by
the allele for FUR colour

Albino  appears in the homozygous recessive condition even if the alleles for agouti and black are
present

There are three possible phenotypes

 Agouti
 Black
 Albino

Observe the following crosses:

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Variation: and the effects of the environment

Discuss the effects of the environment on the phenotype of an organism

The genotype ultimately determines the phenotype and is difficult to change, except in cases of
mutagenic agents; (high radioactivity)

But can the environment have any effect on the phenotype despite the “force” of the genotype?

Classic examples to discuss

 Identical twins
 Homosexuality

Variation and Natural Selection

“This term refers to the different characteristics expressed by organisms which belong to the same
natural population/or specie”

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Darwin  observations e.g. Galapagos Finches

Mendel  Experiments on Pea

Note: The environment can influence phenotypic changes, but can never influence changes beyond that
of the genes (genotype)

Continuous and Discontinuous Variation

Continuous Variation (Quantitative Inheritance)

 Height

A characteristic that shows a complete gradation in a population from one extreme to the other without
any breaks (intermediates)

Others include

 Mass
 Linear dimensions
 Shape and colour of organs

The distribution for one of the characteristics should show a normal distribution curve.

Polygenes are the main contributor to continuous variation. The combined effect is significant.

Discontinuous (Qualitative Inheritance)  the characteristic will exhibit variation but with limits within
the population.

Variation in this case produces individuals showing clear cut differences with no intermediates between
such as: “No in-betweens”

 Blood groups
 Wing lengths in drosophila
 Sex in plants and animals

Here the characteristics are usually controlled by one or two major genes which may have two or more
allelic forms and their phenotypic expression is relatively unaffected by environmental condition

Sources of Variation:

 Crossing Over and Independent Assortment

Mutations: Student Presentations

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