Chapter 1: Introduction

What is genetics?
Genetics is a branch of biology which study about heredity
Genetics: the science of genes, heredity and variation in living
organisms
Genetics concerns the process of trait inheritance from parents to
offspring
Genetics can be applied to the study of all living systems; including
bacteria, plants, animals, and humans.
Genetics is the science of inheritance and variation
 Genetics deals with the similarities between parents and their
progeny and the differences among individuals of a single species. 1
 Con’t
 Heredity/Inheritance refers to the genetically transmission of various character
from parents to progeny.

 It is not the characters that are transmitted from parents to progeny.

 But, genes are transmitted from parents to progeny, and it is genes that govern
the development of character of an individual.

 Character denotes a morphological, anatomical, physiological, biochemical or

behavioural features of all organisms. Some examples of human character are:
eye color, skin color, blood group’s etc.

 Therefore, genetics may be re defined as the science that deals with the
structure, organization, transmission and function of genes, and origin of
variation in them

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 1.1.The History Of Genetics
 Genetics began its development as independent science with initiation of Mendel's
experiments on heredity in 1865.
 Mendel reported his discoveries of the fundamental laws of inheritance
 But mendel’s observations were not recognized for 35 years because of the
absence of the understanding of cell structure & cell division
 Mendel’s paper was discovered in 1900 by other scientist
 During the last half of the 20th century genetics have determined the molecular
structure of Mendel's Factors and the mechanism by which they control the
characters of an organism.
 Genetics has many relationships and impacts with other sciences
 In Medicine, defective genes have been treated by gene therapy hope that has
great potential in the future
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 Con’t
 In Agriculture , one of the greatest achievements was the application of Mendel's
principles to the development of hybrid corn ,hence during the period from 1940
to 1980 the average yield for corn increased by over 250 percent.
 The new genetic technologies have a major impact on Agriculture , inserting
genes for resistance to insects or pathogens into crop plants is becoming a major
weapon in the war against organisms that destroy plants
 Traits are determined by the genes on the chromosomes and gene is a segment of
DNA that determines a trait
 Chromosomes come in homologous pairs, thus genes come in pairs.
 Homologous pairs – matching genes – one from female parent and one from male
parent.
 Example: Humans have 46 chromosomes or 23 pairs.(23 from dad and mam
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 1.2. Branches of Genetics
There are three main branches of modern genetics

1. Molecular genetics: which is the study of heredity at molecular

level concerned with the molecule DNA
2. Classical or mendelian genetics: which is the study of heredity at
the whole organisms by looking at how characteristics are
inherited
3. Population genetics: which is the study of genetic differences
within and between species, including how species evolve by
natural selection

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 1.3. Role of Genetics
Applications of genetics
 Evolutionis:- the process by which populations of organisms change over
generations
 Development
 ecology = environmental science
 molecular biology
 Forensics in criminal courts
 genetics is important in medicine
 Agriculture-improving yield
 Medicine-counseling and gene therapy
 Law-Forensic

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 Chap 2: Mendelian Genetics and its variation
2.1. Mendel’s Experiments and Mode of Inheritance
 Mendel (1822 -1884 ) was an Austrian , he was the father of genetics
 Mendel (1860’s) discovered the fundamental principles of genetics
by breeding garden peas.
 When Mendel began his work , most plant and animal breeders
believed in the blending theory of inheritance it suggest that both
sexes contribute equally to a new , individual, they felt that parents
of contrasting appearance always produce offspring of intermediate
appearance.

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 Mendel's Experiments
 One reason for Mendel's success is that he chose a suitable
experimental material , the garden pea , Pisum sativum
 Mendel obtained many different true-breeding varieties of peas ,
each distinguished by a particular trait .such as plant height ,
seeds color , seeds texture .
 Mendel focused on these singular differences between pea strains
allowed him to study the inheritance of a trait one at a time
 Mendel is cross-pollinated pea plants

he cut away the male parts of one flower, then dusted it with
pollen from another
Then, what did Mendel conclude?
he concluded that factors are passed from generation to the
next. 8
 Con’t
 His experiments provided the first clear clues about how the
factors that control inherited characteristics are transmitted
from one generation to the next.

 Why mendel chose garden peas for his experiment?

1. b/se he has developed a collection of plants that exhibited

clearly observable differences

2. Peas are generally self-pollinating

3.Pea plants has fast growing and easy to raising

 Mendel chose seven contrasting characteristics to study

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 Mendel's Data
Parentals F1 F2 Ratio

Round (WW) X Wrinkled (ww) seeds All round 5474 round:1850 wrinkled 2.96:1

Yellow (GG) X Green (gg) seeds All yellow 6022 yellow:2001 green 3.01:1

Purple (WW) X White (ww) flowers All purple 705 purple:224 white 3.15:1

Axial (SS) X Terminal (ss) flowers All axial 651 axial:207 terminal 3.14:1

882inflated:299
Inflated (CC) X Constricted (cc) pods All inflated 2.95:1
constricted

Green (YY) X Yellow pods (yy) All green 428 green:152 yellow 2.81:1

Tall (TT) X Short stems (tt) All tall 787 tall:277 short 2.84:1
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 Dominant and Recessive Genes
 Gene that prevents the other gene from “showing” – dominant
 Gene that does NOT “show” even though it is present –
recessive
 Symbol – Dominant gene – upper case letter – T
Recessive gene – lower case letter – t
 Alleles: an alternative form of a gene ex: blue eyes or brown
eyes
Genotype and Phenotype:-
 Combination of genes an organism has (actual gene makeup) –
genotype
Ex: TT, Tt, tt
 Physical appearance resulting from gene make-up – phenotype
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 Homozygous and Heterozygous

 When an organism has two identical alleles , we say it is

Homozygous and this organism produce one kind of gamete ( DD

Homozygous dominant produce only D kind gamete ) and ( dd

Homozygous recessive produce only d kind gamete )

 When an organism has two different alleles at a gene locus , we

say it is Heterozygous ,this organism produce two kind of gametes (

Dd Heterozygous produce D and d gametes )

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Punnett square: is a diagrams used to predict the result of cross-
breeding
A cross between two pea plants
heterozygous for purple (B) and white (b) blossoms

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 2.2. Monohybrid Crosses
Monohybrid Crosses: are crosses involving one trait
The principles of Dominance and segregation
Mendel’s law of segregation: Alleles separate during meiosis (gamete
formation)
 Mendel crossed tall and dwarf pea plants to investigate how height
was inherited.
 The seeds that resulted from these cross-fertilizations were sown the
next year ,yielding hybrids that were uniformly tall
 Mendel noted that the dwarf trait seemed to have disappeared in the
progeny of the cross, for all the hybrid plants were tall .
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 Con’t
 To explore the hereditary makeup of these tall hybrids Mendel allowed them to
undergo self –fertilization
 When he examined the progeny , he found that they consisted of both tall and
dwarf plants , with ratio of 3 : 1
 Mendel inferred that these hybrids carried a hidden genetic factor for
dwarfness, one that was masked by the expression of another factor for tallness
 He said that the hidden factor was recessive and that the expressed factor was
dominant .
 Thus , each trait that Mendel studied seemed to be controlled by a heritable
factor that existed in two forms , one dominant , the other recessive
 These factors are now called Genes and their dominant and recessive forms are
called Alleles
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 Con’t
The important conclusion of Mendel from this experiment:
 That genes come in pairs
 Mendel proposed that these two copies are reduced to one during gamete
formation
 Mendel recognized that the diploid gene number would be restored when sperm
and egg unite to form a Zygote
 Mendel used symbols to represent the hereditary factors (genes)
 The two true-breeding varieties, tall and dwarf are Homozygous for different
alleles of a gene controlling plant height
 The allele for dwarfness , being recessive, is symbolized by letter ( d
 The allele for tallness , being dominant , is symbolized by letter ( D )

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 Con’t
 Thus the tall and dwarf pea strains are symbolized by DD and dd respectively .
 Mendel referred to the Parental strains, the ( P ) generation of the experiment .
 Their hybrid progeny are referred to as the first Filial generation ( F1 )
 So the genotype of the F1 must be Dd ( heterozygous ).
 The phenotype of Dd is the same as that of the DD parental strain because D is
dominant over d

 During formation of gamete , the F1 plants produce two kinds of gametes D and
d in equal proportions and they segregate from each other

 This process of allele segregation is the most important discovery that Mendel
made .
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 Con’t
 After self-fertilization , the two kinds of gametes produced four kinds of Zygotes :
DD , Dd , dD , and dd .
 Because of dominance , three of these genotypes have the same phenotype, so the
plants in F2 are either tall or dwarf in ratio of 3 : 1
 The F2 plants were self-fertilized to produced an F3 , all the dwarf F2 plants
produced only dwarf offspring , demonstrating that they were homozygous for the
d allele ,
 but the tall F2 plants produced two categories ( one-third of them produced only
tall offspring whereas the other two-third produced a mixture of tall and dwarf
offspring .

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 Con’t
 We can summarize Mendel's analysis of the Monohybrid
crosses by stating two principles that he discovered:-
1- The principle of dominance ,( In heterozygote , one allele may mask the
presence of another )
2- The principle of segregation , ( In a heterozygote , two different alleles
segregate from each other during the formation of gametes ) .
 This principle is about genetic transmission , an allele is transmitted to the next
generation even if it was present with a different allele in a heterozygote

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 2.3. Dihybrid Crosses
Dihybrid crosses: are crosses involving two traits
The Principle of independent Assortment

 Mendel’s law of independent assortment: Genes for different traits can

segregate independently during the formation of gametes without influencing

each other Or Inheritance of one trait has no effect on the inheritance of

another trait.
 Mendel performed experiments with plants that differed in two traits , he
crossed plants that produced Yellow , Round seeds with plants that produced
Green , Wrinkled seeds
 The F1 seeds were all yellow and round , the alleles for the two seed traits
were dominant .
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 Con’t
 Mendel grew plants from these seeds and allowed them to self-fertilize ,and
classified the F2 seeds according to their phenotype , as following.
 Two Classes , yellow round and green wrinkled resembled the parental strains.
The other two Classes , green round and yellow wrinkled showed new
combinations of traits .
 Mendel noticed that the four classes appeared in ratio of ( 9 ) yellow round ( 3 )
green round ( 3 ) yellow wrinkled ( 1 ) green wrinkled
 These numerical relationships suggested a simple explanation : each trait was
controlled by a different genes segregating two alleles, and the two genes were
inherited independently

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 Con’t

RrYy x RrYy Gamete formation

R = round RrYy = RY, Ry, rY, ry
r = wrinkled
Y = yellow
y = green

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 Con’t
 The principle of segregation predicts that the F1 hybrids (RrYy) will produce
four different gametic genotypes : RY, Ry, rY, ry
 If each gene segregates its alleles independently, each of the four types will be
25 percent of the total
 To determine the number of gametes that will be produced for allele
arrangements the formula = 2n (n = number of heterozygote)
 Self-fertilization in the F1 will produce an array of 16 equally frequent zygotic
genotypes, while the proportion of the four phenotypic classes were : 9/16
yellow round , 3/16 yellow wrinkled, 3/16 green round , 1/16 green wrinkled
 The result of these experiments led Mendel to the principle of independent
assortment : ( The alleles of different genes segregate independently of each
other )
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 Con’t
Mendel's experiments established :- Three basic genetic principles
1.Some alleles are dominant , others recessive .
2-During gamete formation , different alleles segregate from each
other
3- Different genes assort independently
 Mendel's experiments established that genes can exist in alternate
forms , Mendel identified two alleles : one dominance , the other
recessive .
 The interaction between alleles in the same locus ( of the same
gene ) present the following gene functions of dominant and
recessive :
1- Complete dominance . An allele is dominant if it has the same
phenotypic effect in heterozygote as in homozygote , that the genotype
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Aa and AA are the same phenotype .
 Con’t
2-Incomplete dominance ( partial dominance ): When a heterozygote has a
phenotype different from that of either of its associated homozygote .

 Flower colors in the snapdragon are white and red varieties are homozygous
for different alleles of a color gene , when crossed ,they produced heterozygote
that have Pink flowers, the allele for red color ( W ) is therefore said to be
incompletely dominant over the allele for white color ( w ) .
3-Codominant . In this case there is an independence of allele function , neither
allele is dominant or even partial dominant over the other
Or both alleles are expressed
Example. Black cow x white cow = spotted cow
Blood group AB
A, B =dominant
O = recessive
AB = codominant (since each is expressed equally in the heterozygous )

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 2.4. Multiple Alleles
 Sometimes there are more than two alleles for a given chromosome locus in
which case a trait is controlled by multiple alleles .
 But, each individual has only two of all the available alleles at one time

ABO Blood groups inheritance

 multiple alleles comes from the study of human blood types, the A , B , AB , and
O blood types are identified by testing a blood sample with different sera , one
serum detects the A antigen another the B antigen.
When only the A antigen is present on the cells, the blood is type A.
When only the B antigen is present on the cells, the blood is type B .
When both antigens are present, the blood is type AB
and when neither antigen is present ,it is type O

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 2.5. Gene Interactions and Modified Mendelian ratio
Gene interaction
 Some of the first evidences that a trait can be influenced by more than one gene
was obtained by Bateson and Punnett from breeding experiments with chickens
 Domestic breeds of chickens have :

1. Rose comb (Wyandotte chickens )

2. Pea comb ( Brahmas chickens )
3. Single comb ( Leghorn chickens )
• Crosses between Rose comb (Wyandottes) and Pea comb (Brahmas) produce
chickens that have another type of comb called Walnut comb
• Bateson and punnet discovered that comb type is controlled by two
independently assorting genes R and P each with two allele ,and the interaction
between their product result different phenotype
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 Con’t
 Wyandottes (with rose combs) have the genotype RRpp and
Brahmas ( with Pea combs) have the genotype rrPP
 The F1 hybrids between these two varieties are therefore RrPp and
the phenotypes are walnut combs
If these hybrids are inter crossed with each other, all four types of
combs appear in the progeny :
• 9/16 walnut ( R- P- )
• 3/16 rose ( R- pp )
• 3/16 pea ( rr P- )
• 1/16 single ( rr pp )
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 Epistasis

 When two or more genes influence a trait ,an allele of one of

them may have an overriding effect on the phenotype, when an

allele has such effect it said to be epistatic to the other genes

that are involved .And the other gene called hypostatic .

 Epistasis: is simply non-allelic interaction of genes

 the epistasis cause deviation from mendelians proportion in

the F2 progeny of the following cross:

29
 Con’t
 When White Leghorn II CC crossed with colored ii cc the results
would be :
Parent ( P ) II CC × ii cc
gametes I C, i c
F1 ( intercrossed) Ii Cc × Ii Cc
gametes I C , I c ,i C,i c
F2 9/16 ( I- C- ), 3/16 ( ii C- ) ,3/16(I- cc) ,1/16( ii cc)
The phenotypic ratio would be : 13 white : 3 colored

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 2.6. Pleiotropy
 Not only is it true that a phenotype can be influenced by many genes
, but also true that a gene can influence many phenotypes , it is said
Pleiotropic
 For example ; from the study of mutations affecting the formation
of bristles in Drosophila, wild type flies have long ,smooth curved
bristles on the head and thorax .

 This gene also needed for the production of healthy , fertile eggs.
Thus , this gene pleiotropically controls the formation of both
bristles and eggs in females and formation of bristles in males
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 2.7. Statistical Analysis of Genetic Data
Chi-Square Test
 Chi-square is a statistical test commonly used to compare
observed data with data we would expect to obtain according
to a specific hypothesis.
 The chi-square test will be used to test for the "goodness to fit"
between observed and expected data
 The chi-square test is always testing what scientists call
the null hypothesis, which states that there is no significant
difference between the expected and observed result.
 The formula for calculating chi-square
32
 Con’t
X 2 = (o-e)2/e
For example, suppose that a cross between two pea plants yields a
population of 880 plants, 639 with green seeds and 241 with yellow
seeds. You are asked to propose the genotypes of the parents.
Your hypothesis is that the allele for green is dominant to the allele
for yellow and that the parent plants were both heterozygous for
this trait. If your hypothesis is true, then the predicted ratio of
offspring from this cross would be 3:1 (based on Mendel's laws) as
predicted from the results of the Punnett square

33
 Con’t
Test the hypothesis and calculate the chi-square
Step-by-Step Procedure for Testing Your Hypothesis and
Calculating Chi-Square
1. State the hypothesis being tested and the predicted results. Gather
the data by conducting the proper experiment (or, if working
genetics problems, use the data provided in the problem).
2. Determine the expected numbers for each observational class.
Remember to use numbers, not percentages.
3. Calculate X 2 using the formula. Complete all calculations to three
significant digits. Round off your answer to two significant digits.
34
 Con’t
4. Use the chi-square distribution table to determine significance of the
value.
 Determine degrees of freedom and locate the value in the
appropriate column.
 Locate the value closest to your calculated X 2 on that degrees of
freedom df row.
 Move up the column to determine the p value.

5. State your conclusion in terms of your hypothesis.

If the p value for the calculated X2 is p > 0.05, accept your hypothesis.
'The deviation is small enough that chance alone accounts for it.
35
 Con’t
 If the p value for the calculated X2 is p < 0.05, reject your
hypothesis, and conclude that some factor other than chance is
operating for the deviation to be so great.
 Calculating Chi-Square

36
 Chi-Square Distribution Table
Degrees
of Probability (p)
Freedom
(df)

0.95 0.90 0.80 0.70 0.50 0.30 0.20 0.10 0.05 0.01 0.001
1 0.004 0.02 0.06 0.15 0.46 1.07 1.64 2.71 3.84 6.64 10.83
2 0.10 0.21 0.45 0.71 1.39 2.41 3.22 4.60 5.99 9.21 13.82
3 0.35 0.58 1.01 1.42 2.37 3.66 4.64 6.25 7.82 11.34 16.27
4 0.71 1.06 1.65 2.20 3.36 4.88 5.99 7.78 9.49 13.28 18.47
5 1.14 1.61 2.34 3.00 4.35 6.06 7.29 9.24 11.07 15.09 20.52
6 1.63 2.20 3.07 3.83 5.35 7.23 8.56 10.64 12.59 16.81 22.46
7 2.17 2.83 3.82 4.67 6.35 8.38 9.80 12.02 14.07 18.48 24.32
8 2.73 3.49 4.59 5.53 7.34 9.52 11.03 13.36 15.51 20.09 26.12
9 3.32 4.17 5.38 6.39 8.34 10.66 12.24 14.68 16.92 21.67 27.88
10 3.94 4.86 6.18 7.27 9.34 11.78 13.44 15.99 18.31 23.21 29.59
37
 Con’t
How to interpret the X2 value:
1. Hypothesis = there is no significant difference b/n observed and
expected data.
2. Expected numbers = (880) x(3/4) = 660 green
880-660 = 220 yellow
3. Chi-square
X2 = (o-e)2/e = [(639-660)2/660 ] + [(241-220)2/220]
[(-21) 2/660] + [(21) 2/220]
[441/660] + [441/220]
0.666 + 2
2.67

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 Con’t
4. Chi-square distribution table

The degree of freedom = 2-1 = 1

The number closest to calculated chi-square value is 2.71

The p value at 1 degree of freedom and closest value 2.71 is 0.10

5. P value 0.10>0.05, therefore, the observed chi-square is not

significantly different from expected. The observed numbers are

consistent with those expected under Mendel's law.

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 2.9. Lethal Alleles
 Lethal allele: an allele that produces a phenotypic effect that caus
es the death of the organism at any stage of life
.
 The allele may be dominant, incompletely dominant, or recessive
 Alleles that cause an organism to die are called lethal alleles,
where the gene involved is an essential gene
 When Mendel's Laws were rediscovered, geneticists believed
that mutations would only alter the appearance of a living
organism.
 However, it was discovered that a mutant allele could cause
death. 40
 Con’t

 When an essential gene is mutated, it can result in a lethal phenotype.

 If the mutation is caused by a dominant allele, the homozygote dominant and

heterozygote for the allele will show the lethal phenotype.

 If the mutation is caused by a recessive allele, the homozygote recessive for the

allele will have the lethal phenotype.

 Lethal alleles can be dominant or recessive and can be sex linked or autosomal.

 If the allele is dominant, then both homozygous dominant and heterozygous

individuals will die

 If it is a recessive allele, then only the homozygous recessive individuals will die.
41
 Con’t
How to distinguish between recessive lethal alleles and dominant lethal alleles?
Dominant lethal alleles- are rarely considered in genetics
Dominant lethal alleles- can only occur due to spontaneous mutation and will kill
the offspring
Recessive lethal alleles- are more interesting, the offspring can survive with one
copy of the gene (heterozygote)
A lethal allele is just an allele that causes the offspring to be inviable
Some genes are lethal when both alleles are present
Lethality can occur before or after birth
For example: sickle cell anaemia

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 CH 3. Chromosomal Basis Of Inheritance, Sex
Determination And Sex Linkage
3.1. Chromosomes-features, morphology & nomenclature
 A chromosome is an organized structure of DNA and protein that is found in
nucleus of the cell.
 The DNA strand is wrapped around a core of histone proteins to form a fiber
 Chromosome is an inheritance particle found in the nucleus
 Chromosomes are the vectors of heredity.
 It is a single piece of coiled DNA containing many genes, regulatory elements
and other nucleotide sequences.
 Chromosomes vary widely between different organisms.
 It was soon found that the number of chromosomes in all of the somatic cells of
an organism was constant. 43
 Con’t

 Human cells always had 46 chromosomes, sunflower cells always had 34 and
cells of cats always had 38.
 Some organisms have very large numbers of small chromosomes while others
have very few larger chromosomes
 Chromosomes exist in pairs, one of which was donated by the mother (egg cell)
and the other donated by the father (sperm cell).
 During most of the life cycle of a cell distinct chromosomes are not visible.
 Cells that have a single copy of each chromosome (i.e. gametes) are said to be
haploid and have the chromosome number of n.

 Gametes had one half the chromosome number of somatic cells.

44
 Con’t
 So human egg cells have 23 chromosomes, which join with the 23 chromosomes
of the sperm at fertilization to make the full 46-chromosome complement.
 Somatic cells that have both maternal and paternal sets of chromosomes are called
diploid and have a 2n chromosome number.

45
 Con’t
The two principles of Theodor Boveri were the continuity of chromosomes and the
individuality of chromosomes (each chromosome carries a different genetic load)
 The DNA molecule may be circular or linear
 Eukaryotic cells (cells with nuclei) have large linear chromosomes and
prokaryotic cells (cells without defined nuclei) have smaller circular
chromosomes
 Bacteria (prokaryotic cells) usually have a single circular chromosome.
 Bacterial DNA is not packaged by histones

 Homologous chromosomes: are pairs of chromosomes which contain a paternal

and maternal copy.
 These copies have the same genes in the same locations, or loci, as one another.
46
 Con’t
 In diploid (2n) organisms, the genome is composed of pairs of homologous
chromosomes with one coming from the father and the other from the mother.
 The alleles on the homologous chromosomes may be different, resulting in
different phenotypes of the same genes.
 Homologous chromosomes are chromosomes which contain the same genes in the
same order on their chromosomal arms.
 Other organisms have more than two copies of their chromosomes, such as bread
wheat, which is hexaploid and has six copies of seven different chromosomes –
42 chromosomes in total.
 Some animal and plant species are polyploid [Xn]: They have more than two sets
of homologous chromosomes
 The more-common pasta and bread wheats are polyploid, having 28 (tetraploid) and 42
(hexaploid) chromosomes, compared to the 14 (diploid) chromosomes in the wild wheat
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 Human chromosomes
 Chromosomes in humans can be divided into two types

-Autosomes & sex chromosomes

 Certain genetic traits are linked to a person's sex and are passed on through the
sex chromosomes.
 Human cells have 23 pairs of chromosomes (22 pairs of autosomes and one pair
of sex chromosomes), giving a total of 46 per cell.
 There are two copies of each autosome (chromosomes 1-22) in both females and
males. The sex chromosomes are different: There are two copies of the X-
chromosome in females, but males have a single X-chromosome and a Y-
chromosome.
 Humans have 46 chromosomes, but there are only 22 pairs of true homologous
chromosomes.
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 Con’t
 The additional 23rd pair is comprised of the sex chromosomes, X and Y.
 If this pair is made up of an X and Y chromosome, then the pair is not truly
homologous because their size and types of genes differ slightly.
 The 22 pairs of homologous chromosomes contain the same genes but code
for different traits in their allelic forms due to the fact that one was inherited
from the mother and one from the father
 The Y-chromosome is one of the two sex-determining chromosomes in most
mammals, including humans
 In addition to these, human cells have many hundreds of copies of the
mitochondrial genome.

49
 Con’t
 Cells may contain more than one type of chromosome; for example, mitochondria
in most eukaryotes and chloroplasts in plants have their own small chromosomes.
 In eukaryotes, nuclear chromosomes are packaged by proteins into a condensed
structure called chromatin. This allows the very long DNA molecules to fit into
the cell nucleus.
 Mitochondria and Chloroplasts. These organelles contain their own DNA
genomes.
 The DNA in these organelles is similar to that of bacteria, circular and not
packaged by histones.
 The genes found in organelles are called cytoplasmic genes and they can have a
very important effect on inheritance.
 In plants, cytoplasmic male sterility, which is caused by disruptions in the
mitochondrial genome, is a important tool for plant breeding. 50
 Con’t
 Prokaryote species generally have one copy of each major chromosome, but most
cells can easily survive with multiple copies
 The structure of chromosomes and chromatin varies through the cell cycle.
 Chromosomes are the essential unit for cellular division and must be replicated,
divided, and passed successfully to their daughter cells so as to ensure the genetic
diversity and survival of their progeny.
Chromatin:-is the combination of DNA, histone, and other proteins that make up
chromosomes
 It is divided between heterochromatin (condensed) and euchromatin (extended)
forms.
 The functions of chromatin are to package DNA into a smaller volume to fit in the
cell, to strengthen the DNA to allow mitosis and meiosis, and to control gene
51
expression and DNA replication.
 Cell division
Cell division- the division of chromosomes and cytoplasm of a cell into two cells
in known as cell division.
 The cell that undergoes division is termed as parent cell, while the cell derived
from the division of a parent cell are known daughter cells
 There are mainly two types of cell divisions:

1) Mitosis and 2) meiosis

 The various events occurring during cell division may be grouped into two
categories:
1) Karyokinesis and, 2) Cytokinesis.
Karyokinesis- is the division of chromosomes of a cell into two groups, which give
rise to the two daughter nuclei.

52
 Con’t

Cytokinesis refers to the division of cytoplasm of a cell into two halves to produce
two daughter cells each of which ordinary contains a single daughter nucleus.
 All living things are composed of cells.
 Mitosis begins with prophase.

Significance of mitosis
Genetic stability Mitosis produces two nuclei, which have the same number of
chromosome as the parent cell.
Daughter cells are genetically identical to the parent cell and no variation in
genetic information can therefore be introduced during mitosis.
Growth- the number of cells within an organism increases by mitosis and this is
the basis on growth in multicellular organisms.
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 Significance of mitosis
Genetic stability Mitosis produces two nuclei, which have the same number
of chromosome as the parent cell.
Daughter cells are genetically identical to the parent cell and no variation in
genetic information can therefore be introduced during mitosis.
Growth- the number of cells within an organism increases by mitosis and this
is the basis on growth in multicellular organisms.

54
 Con’t
Cell replacement- Replacement of cells and tissues also involves
mitosis. Cells are constantly drying and being replaced, an obvious
example being in the skin.
Regeneration- some animals are able to regenerate whole parts of the
body, such as legs in crustacea and arms in starfish. Production of
the new cells involves mitosis.
Asexual reproduction- Mitosis is the basis of asexual reproduction,
the production of new individuals of a species by one parent
organism. Many species undergo asexual reproduction.

55
 Con’t
3.4. Chromosomal Theory of Inheritance
Definition
The theory that chromosomes are linear sequences of genes. The unifying theory
stating that inheritance patterns may be generally explained by assuming that
genes are located in specific sites on chromosomes.
What is the chromosome theory of inheritance?
 Answer = it is a basic principle in biology stating that genes are located on
chromosomes and that the behavior of chromosomes during meiosis accounts for
inheritance patterns. it is also the only good theory
What if a person have more chromosome or less chromosome?
 Having additional or missing chromosomes can have a variety of effects, ranging
from mild to fatal. For example, females missing an X...
56
 Con’t

Are all Chromosomes found in the nucleus of cells or do certain organisms have chro
mosomes stored elsewhere?

 Chromosomes as such as found only within the nucleus. The mitochondria of

animal and chloroplasts of plants contain their own DNA.
Are all chromosomes identical to the parents chromosomes?
 No. When a sperm and an egg cell come together, the chromosomes literally
come apart and...
 You know that girls have xx chromosomes and guys have xy chromosomes but
what happens if a human has a yy yyy xxy xxx or yyx chromosome what are they
now?
57
 An X chromosome is much, much larger than a Y chromosome.
 Con’t
• A gene on the female chromosome having no allelic partner on the y chromosome
would be what?

• An individual (male) with an allele on the X chromosome but no corresponding

allele on y chromosome

3.2. Mitosis and the cell cycle

The process by which a cell separates its duplicated genome into two identical
halves.
Mitosis is nuclear division plus cytokinesis, and produces two identical daughter
cells.
During mitosis, each of the chromosomes is replicated and transferred to the
daughter cells so that they have an exact copy of each chromosome.
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 Con’t
Stages of Mitosis
There are six stages of mitosis
1. Interaphase
2. Prophase
3. Prometaphase
4. Methaphase
5. Anaphase
6. Telophase
1.Interphase:The cell is engaged in metabolic activity and performing its
preparation for mitosis
 Chromosomes are not clearly distinguished in the nucleus during, although a
dark spot called the nucleolus may be visible.
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 Con’t

2. Prophase: Chromatin in the nucleus begins to condense and becomes visible

in the light microscope as chromosomes.
Nucleolus: is a non-membrane bound structure found in the nucleus, composed of
protein & nucleic acid. Its function is to transcribe rRNA.
Chromatin: is the combination of DNA and proteins that make up the contents
of the nucleus of a cell.
The primary functions of chromatin are
1. To package DNA into a smaller volume to fit in the cell,
2. To strengthen the DNA to allow mitosis,
3. To prevent DNA damage, and
4. To control gene expression and DNA replication.
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 Con’t
Centrioles are involved in the organization of the mitotic spindle and in the
completion of cytokinesis.
Centromere is the part of a chromosome that links sister chromatids.
Sister chromatids: are generated when a single chromosome is replicated into two
copies of itself.
• The two sister chromatids are separated from each other into two different cells
during mitosis.
kinetochore - a highly complex multiprotein structure that is responsible for the
actual events of chromosome segregation
 The nucleolus disappears and Centrioles begin moving to opposite ends of the cell
and fibers extend from the centromeres.
 Some fibers cross the cell to form the mitotic spindle.
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 Con’t
3. Prometaphase
 The nuclear membrane dissolves, marking the beginning of prometaphase.
 Proteins attach to the centromeres creating the kinetochores.
 Microtubules attach at the kinetochores and the chromosomes begin moving.

4. Methaphase
 Spindle fibers align the chromosomes along the middle of the cell nucleus.
 This organization helps to ensure that in the next phase, when the chromosomes
are separated, each new nucleus will receive one copy of each chromosome.
5. Anaphase
 The paired chromosomes separate at the kinetochores and move to opposite sides
of the cell.

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 Con’t
6. Telophase

 Chromatids arrive at opposite poles of cell, and new membranes

form around the daughter nuclei.

 The chromosomes disperse and are no longer visible under the light

microscope.

 The spindle fibres disperse, and cytokinesis or the partitioning of the

cell may also begin during this stage.

63
 3.3. Meiosis and Sexual Reproduction
 The process of cell division in diploid organisms through which germ cells
(gametes) are created.
 Meiosis reduces the chromosome number by half by separating the homologous
chromosomes in a germ cell.
 The mechanism of nuclear divisions that results in the production of gametes with
one half of the original chromosome compliment of the mother cell is called
meiosis.
Significance of meiosis
1/Sexual reproduction- Meiosis occurs in all organisms carrying out sexual
reproduction.
2/Genetic variation- Meiosis also provides opportunities for new combinations of
genes to occur in the gametes. This leads to genetic variation in the offspring
64
produced by fusion of the gametes.
 Con’t
 During interphase prior to meiosis, the chromosomes replicate, but during
prophase I, each chromosome finds its matching homologue and binds tightly to it
in a process called synapsis
 The paired chromosomes align themselves at the equator of the cell during
metaphase I and the spindle fibers attach to the centromeres.
 During anaphase I, the homologous chromosome pairs are separated from each
other.
 Telophase I results in the formation of two daughter cells that each have one
member of the original chromosome pairs that were present in the mother cell.
 The second meiotic division is very similar to mitosis except that the
chromosomes do not replicate.
 The chromosomes condense during prophase II
 The spindle fibres align them at the center line of the cell during metaphase II. 65
 Con’t
 During anaphase II the centromeres that hold the sister chromatids together
separate and the chromatids are drawn apart.
 After telophase II, four daughter cells have been produced that each contains a
single (haploid) set of chromosomes. These cells are the gametes.
3.5. Sex Determination and Sex Linkage
3.5.1.Sex Inheritance
 One pair of the chromosomes called sex-chromosome which responsible for sex
determination and sexual traits , the other pairs of chromosomes called autosomal
chromosomes .
 In some animal species – for example, grasshoppers females have one more
chromosome than males , this extra chromosome originally observed in other
insects is called X chromosome or we called sex -chromosome
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 Con’t
3.5.2. Sex-determination
1. Males heterogametic
A- The XX – XO system

 Females of these species have two X chromosomes and males have

only one , thus females are cytologicaly XX and males are XO
where the O denotes the absence of a chromosome .
 During meiosis in the female, the two X chromosomes pair and then
separate ,producing eggs that contain a single X chromosome.
 During meiosis in the male , the solitary X chromosome moves
independently of all the other chromosomes and appear in half the
sperms, the other half receive no X chromosome. 67
 Con’t
 Thus , when sperms and eggs unite ,two kinds of zygotes are produced . XX
which develop into females and XO which develop into males , and the
reproduction mechanism produce a 1 : 1 ratio of males to females in these
species
B/The XX – XY system
 In many other animals , including human beings ,and Drosophila males and
females have the same number of chromosomes , this numerical equality is due
to the presence of a chromosome in the male , called the Y chromosome which
pairs with the X chromosome during meiosis.
 The Y chromosome morphologically different from the X chromosome , In
human ( for example ) the Y is much shorter than X and its centromere is
located closer to one of the ends .
68
 Con’t
 During the meiosis in the male , the X and Y chromosomes separate from each
other , producing two kinds of sperms , X-bearing and Y-bearing , while XX
females produce only one kind of eggs which is X-bearing
 If fertilization were to occur randomly approximately half the zygotes would be
XX and the other half would be XY leading to a 1 : 1 sex ratio .

Sex Determination in human beings

 sex might be determined by the presence or absence of a Y chromosome
 In human and other placental mammals , maleness is due to a dominant effect of
the Y chromosome , The evidence for this fact comes from the study of
individuals with an abnormal number of sex chromosomes
 The XO animals develop as females, and XXY animals develop as males .

69
 Con’t
 The dominant of the Y chromosome is manifested early in the development, when
it directs the primordial gonads to develop in to test, once the testes have formed
they secrete testosterone , a hormone that stimulates the development of male
secondary sex characters
2- Males homogametic system
A- The ZZ – ZW system
 In bird , butterflies and some reptile , this situation is reversed , Males are
homogametic ( usually denoted ZZ ) and females are heterogametic (ZW)
B- The ZZ – ZO system
 In chickens there is no evidence about the presence of W chromosome , so we
denoted to the females ZO and the males ZZ

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 3- Haploid – Diploid system
 In honey bees, sex is determined by whether the animal is haploid or diploid
 Diploid embryos, which develop from fertilized eggs ,become females , haploid
embryos , which develop from unfertilized eggs, become males .
 Whether or not a given female will mature into a reproductive form ( queen )
depends on how she was nourished as a larva .
 In this system , a queen can control the ratio of male to females by regulating the
proportion of unfertilized eggs that she lays .
3.5.2. Sex-linked inheritance, sex-limited and sex influenced traits
Sex –Linked Genes
 Genes which located on X chromosome called sex –linked genes , and the traits
influenced with these genes called sex-linked traits

71
 Con’t
• In human beings , recessive x-linked traits are much more easily identified than
are recessive autosomal traits , a male needs only to inherit one recessive allele
to show an x-linked trait .
• However, a female needs to inherit two recessive allele ( one from each of her
parents ) to show an x-linked trait . Thus , the most appearance of x-linked traits
are in the males.
• example for x-linked trait is the color blindness in human beings , a heterozygous
female carrier has a chance for transmitting the mutant allele to her children .
Hemophilia , an X-linked disease
• In human beings , a certain type of hemophilia is one of the best known example
of an x-linked trait , people with this disease are unable to produce a factor
needed for blood clotting( the cut and wounds of hemophiliacs continue to bleed
72
and can cause death )
 Con’t
 Nearly all the individuals affected with x-linked hemophilia are males .
The inheritance of sex-linked hemophilia disease

73
 Sex influenced trait
• Some genes not located on the X chromosome or Y chromosome are expressed
differently in the two sexes, and therefore they referred to as sex-influenced traits
• An example for this traits is male pattern baldness is dominant in males but
recessive in females .
• A phenotypic characteristic or trait such as male pattern baldness that is
expressed differently in males and females, usually because its expression
depends on androgens or oestrogens, and
• That is controlled by a single gene that is dominant in males but recessive in
females, so that, for example, men who inherit the gene from either parent lose
hair as they age, whereas women do so only if they inherit it from both parents
and are thus homozygotes

74
 Con’t
Sex-limited genes
• Sex-limited genes are genes that are present in both sexes of
sexually reproducing species but are expressed in only one sex and remain
'turned off' in the other.
• In other words, sex-limited genes cause the two sexes to show different traits or
phenotypes, despite having the same genotype. This term is restricted to
autosomal traits
Eg beards in humans
3.5.3. Sexuality in plants
Sexuality of individual flowers
 Bisexual or perfect flowers/. have both male (androecium) and female
(gynoecium) reproductive structures on the same flower
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 Con’t

 Unisexual: Reproductive structure that is either functionally male or

functionally female.
 Hermaphrodite, a plant that has only bisexual reproductive units
 Monoecious, a plant that has both male and female reproductive units on
separate flowers eg maize
 Dioecious: refers to a plant population having separate male and female plants.
Eg papaya
 Polygamy, plants with male, female, and perfect (hermaphrodite) flowers on the
same plant
 A polygamous inflorescence has both unisexual and bisexual flowers.

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 Chap 4. Linkage, Crossing-over And Chromosome Mapping
What is linkage?
 Linkage is the failure of two genes to assort independently.
 Linkage occurs when two genes are close to each other on the same chromosome
 Genetic linkage is the tendency of genes that are located proximal to each other
on a chromosome to be inherited together during meiosis.
 Genes whose loci are nearer to each other are less likely to be separated onto
different chromatids during chromosomal crossover.
 Linkage is based on the frequency of crossing over between the two genes.
 Chromosomal crossover (or crossing over) is the exchange of genetic material
between homologous chromosomes that results in recombinant chromosomes
 Crossover usually occurs when matching regions on matching chromosomes
break and then reconnect to the other chromosome.
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 Con’t
 Crossing over occurs in prophase of meiosis 1, where homologous chromosomes
break at identical locations and rejoin with each other.
 Mendel’s Law of Independent Assortment (during gamete formation, segregation
of one gene pair is independent of other gene pairs) derived because the traits he
studied were determined by genes on different chromosomes.
 First, consider two genes, each with two alleles A a and B b on separate
chromosomes
A B
——•———— ——•————
——•——— ——•———
a b
 Gametes (non-homologous chromosomes assort independently at anaphase):

78
 Con’t

Gamete Expected Genotype Proportion

A B
——•———— ——•———— Parental AB ¼

a b
——•———— ——•———— Parental ab ¼

A b
——•———— ——•———— Recombinant Ab ¼

a B
——•———— ——•———— Recombinant aB 1/4

79
 Con’t
 So, when genes are on different chromosomes, 50% of the gametes produced by
a doubly-heterozygous individual are recombinant, when compared to the
gametes produced by its parents. The other 50% are parental.
 If two genes occur on the same chromosome, they may not assort independently
at anaphase of meiosis. These genes are said to be linked and demonstrate
linkage in genetic crosses. Linkage is present when fewer than 50% of the
gametes produced by a double heterozygote are recombinant.
 Now consider a case where the two genes are on the same chromosome: (A and
B are linked)

A B
——•———•———
——•———•———
a b
80
 Con’t
Gametes resulting from no crossover:
Gamete Expected Prob.
A B
——•———————— Parental 1/4
A B
——•———————— Parental ¼
a b
——•———————— Parental 1/4
a b
——•———————— Parental 1/4

81
 Con’t
Gametes resulting from crossover:
Gamete Expected Prob.
A B
——•———————— Parental 1/4
a b
——•———————— Parental 1/4
A b
——•———————— Recombinant 1/4
a B
——•———————— Recombinant 1/4

82
 Con’t
 If there were no crossing over, all the alleles on a single chromosome would
segregate together and would end up in the same gamete.
 But, with crossing over, we get recombination of alleles on the same
chromosomes.
 Since crossover occurs in the 4-strand stage of meiosis, and involves only two of
the four chromatids, each crossover event results in 50% recombinant gametes,
and 50% parental gametes.
 Genes with recombination frequencies less than 50% are present in the same
chromosome (linked).
 Two genes that undergo independent assortment, indicated by a recombination
frequency of 50 percent, are either on non homologous chromosomes or are
located far apart in a single chromosome (crossing over occur)
83
 Con’t

 Genes on different chromosomes  50% recombinant gametes after

meiosis

 Genes on the same chromosome ≤ 50% recombinant gametes after

meiosis

 If crossover is there, recombinant gamete = 50%

 If no crossover, recombinant gamete < 50%

84
 Genetic map/linkage map
 A genetic map/linkage map shows the position of its known genes or genetic
markers relative to each other in terms of recombination frequency, rather than a
specific physical distance along each chromosome.
 Linkage mapping is important for identifying the location of genes that cause
genetic diseases.
 A map unit is a unit that represents a recombination frequency of 1%, between
genes, and, is used as a measure of distance between genes
 Unit of distance in linkage map is a map unit
- 1 map unit is equal to 1 percent recombination.
 A map unit is also equivalent to 1 crossover event in every 50 meiotic divisions
 The frequency with which crossing over occurs between any two linked genes is
proportional to the distance between the loci along the chromosome. 85
 Con’t
1. At very small distances, crossover is very rare, and most gametes are parental.
2. As the distance between two genes increases, crossover frequency increases. More
recombinant gametes, fewer parental gametes.

3. When genetic loci are very far apart on the same chromosome, crossing over

always occurs, and the frequency of recombinant gametes approaches 50

percent.

Multiple Crossover Events

 Unless genes are very close together, more than one crossover event can occur in
a single meiotic division.
 Genetic recombination is the process by which two DNA molecules exchange
genetic information, resulting in the production of a new combination of alleles.
86
 Con’t
 The information exchange may occur by the breaking and rejoining of DNA
strands, which forms new molecules of DNA
 Most recombination is naturally occurring.
 Recombination can be artificially induced in laboratory (in vitro) settings,
producing recombinant DNA for purposes including vaccine development.
 In meiosis, non-sister homologous chromosomes pair with each other so that
recombination characteristically occurs between non-sister homologues.
 Synapsis: During meiosis, synapsis (the pairing of homologous chromosomes)
ordinarily precedes genetic recombination.
 Crossing over is essential for the normal segregation of chromosomes during
meiosis.

87
 Con’t

 Crossing over also accounts for genetic variation, because due to

the exchange of genetic material during crossing over, the

chromatids held together by the centromere are no longer identical.

 So, when the chromosomes go on to meiosis II and separate, some

of the daughter cells receive daughter chromosomes with

recombined alleles.

 Due to this genetic recombination, the offspring have a different set

of alleles and genes than their parents do. 88

 4.2. Construction of Genetic Maps
What Is a Gene Map and How Is It Constructed?

 A gene map: is the descriptive representation of a single gene's structure.

 To construct a map, researchers collect tissue samples from members of a certain

family where a disease is prevalent.

 Gene mapping is used in science to know the specific location of genes on

chromosomes.

 Gene mapping is an important step in helping scientist understand genetic disease

 It is also important to discover more about other genes and to determine the

relative positions between genes on a chromosome.

89
 Con’t
How are genes mapped?
How are gene maps constructed?
 They are constructed by using recombination rates. It measures the frequencies of
crossing over between genes. this has been used to construct the gene maps.

What are gene maps based on?

 the frequencies of crossing over between genes

What Does a Gene Map Show?

 A gene map shows the sequence of genes that are found on a person’s
chromosomes.
 They can be of use when determining if genetic disorders are prevalent

90