GENETICS

Fasil Ahmed

May 2020
 GENETICS

1. INTRODUCTION

 Genetics is the study of genes, heredity, and genetic variation in living organisms.

 Gene is a portion of DNA that codes for a known cellular function or process.

 Heredity is the passing of traits to offspring.

 Variation is the differences within a species.

 Genetics as a set of principles and analytical procedures did not begin until the 1860s, when an

Augustinian monk named Gregor Mendel performed a set of experiments that pointed to the

existence of biological elements that we now call genes.

 The father of genetics is Gregor Mendel.

 He studied 'trait inheritance', patterns in the way traits were handed down from parents

to offspring.

 He observed that organisms (pea plants) inherit traits by way of discrete "units of

inheritance".

 Modern genetics has expanded beyond inheritance to studying the function and behavior of genes.

 Genetics is generally considered a field of biology, but it intersects frequently with many of the life

sciences and is strongly linked with the study of information systems.

 Genetics occupies a pivotal position in the entire subject of biology. Therefore, for any serious

student of plant, animal, or microbial life, an understanding of genetics is essential.

 Genetics, like no other scientific discipline, is central to numerous aspects of human affairs. It

touches our humanity in many different ways. Indeed, genetic issues seem to surface daily in our

lives, and no thinking person can afford to be ignorant of its discoveries.

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 2. GENETIC CROSSES

 A genetic cross can be defined as the breeding of two different individuals resulting in offspring

that carries a portion of the genetic material of both the parent individuals.

 The parent individuals involving in the cross may be from species that are closely related or from

different varieties and the parent individuals are compatible genetically.

 The different genetic crosses occurring between breeding individuals are the monohybrid cross and

the dihybrid cross.

 The word genetics comes from the word “gene,” and genes are the focus of the subject. Whether

geneticists study at the molecular, cellular, organismal, family, population, or evolutionary level,

genes are always central in their studies.

Chromosomes, Genes, Alleles and Characteristics of an Organism

i. Chromosomes

 Chromosomes are thread-like structures located inside the nucleus of a cell

 They are packaged and organized structures containing most of the DNA of a living organism.

 They have marked affinity and are very strongly stained by basic dyes.

 Chromosomes vary in number and shape among living things.

 Humans, along with other animals and plants, have linear chromosomes that are

arranged in pairs within the nucleus of the cell.

 Most organisms have number of chromosomes between 12 and 50.

 Chromosomes are made from DNA, which is bound with histone proteins.

 In prokaryotes and viruses, the DNA is often densely packed and organized: in the case of

archaea, by homologs to eukaryotic histones, and in the case of bacteria, by histone-like

proteins.

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  Small circular genomes called plasmids are often found in bacteria and also in mitochondria

and chloroplasts, reflecting their bacterial origins.

 In humans and most other complex organisms, one copy of each chromosome is inherited from

the female parent and the other from the male parent. This explains why children inherit some

of their traits from their mother and others from their father.

a. DNA

 Deoxyribonucleic acid is a molecule that carries most of the genetic instructions used in the

development, functioning and reproduction of all known living organisms and many viruses.

 Most DNA molecules consist of two biopolymer strands coiled around each other to form a

double helix.

 The two DNA strands are known as polynucleotides since they are composed of

simpler units called nucleotides. Each nucleotide is composed of a nitrogen-containing

nucleobase-either cytosine (C), guanine (G), adenine (A), or thymine (T) - as well as a

monosaccharide sugar called deoxyribose and a phosphate group.

 The two strands of DNA run in opposite directions to each other and are therefore anti-

parallel.

 DNA stores biological information. It is the sequence of the four nucleobases along the

backbone that encodes biological information.

 DNA's ability to store and transmit information lies in the fact that it consists of two

polynucleotide strands that twist around each other to form a double-stranded helix.

 The DNA backbone is resistant to cleavage, and both strands of the double-stranded structure

store the same biological information.

 An important property of DNA is that it can replicate, or make copies of itself. Each strand of

DNA in the double helix can serve as a pattern for duplicating the sequence of bases.

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 b. Histone

 Histones are highly alkaline proteins found in eukaryotic cell nuclei that package and order the

DNA into structural units called nucleosomes.

 They are the chief protein components of chromatin, acting as spools around which DNA

winds, and playing a role in gene regulation.

 Without histones, the unwound DNA in chromosomes would be very long.

 Histones were discovered in 1884 by Albrecht Kossel.

ii. Gene

 A gene is a locus of DNA that encodes a functional RNA or protein product, and is the

molecular unit of heredity.

 The transmission of genes to an organism's offspring is the basis of the inheritance of

phenotypic traits.

 Any one gene can exist in several forms that differ from one another, generally in small ways.

iii. Allele

 The word "allele" is a short form of allelomorph ("other form"), which was used in the early

days of genetics to describe variant forms of a gene detected as different phenotypes.

 An allele is one of a number of alternative forms of the same gene or same genetic locus.

 Sometimes, different alleles can result in different observable phenotypic traits, such as

different pigmentation. However, most genetic variations result in little or no observable

variation.

 Each pair of alleles represents the genotype of a specific gene.

 Genotypes are described as homozygous if there are two identical alleles at a particular locus

and as heterozygous if the two alleles differ.

 When an organism is heterozygous at a specific locus and carries one dominant and one

recessive allele, the organism will express the dominant phenotype.

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How do we Predict Ratios in a Monohybrid Cross?

 A monohybrid cross: A genetic cross or breeding situation that relates to just one trait or feature.

 Gregor Mendel discovered the rules by which genes are inherited.

 Experimented with pea plants

 Deduced the rules of inheritance from his results

Mendel‟s Experiment

 Cross-bred two pea plants with contrasting features

 Self-pollinated the plants for several generations to get „true-breeding‟ plants

 Cross-bred the true-breeding plants

Procedure using flower color

1. Removed stamens from the flowers of the purple-flowered plant

2. Transferred pollen from the flowers of the white-flowered plant to the carpel of the purple flowers

3. The pollinated carpel produced a pea pod containing several pea seeds

4. He collected and grew all the seeds from all the pods

5. Noted the color of the flowers

6. Carried out reciprocal crosses

 All the offspring (F1 generation) have purple flowers

 Self pollinated the F1 plants

 In the F2 generation, a ratio of very nearly 3 purple for every white flower

Mendel‟s explanation of his results

1. Every trait is controlled by two „heritable factors‟.

2. If the two alleles in an individual are different, one is dominant and one is recessive.

3. The only physical link between the generations is the gametes.

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4. The heritable factors separate when the gametes are formed.

 Law of segregation

 Gametes fuse randomly at fertilization.

5. The inheritance of one trait is independent of the inheritance of another.

 Law of independent assortment

How can parents showing one version of a feature have children with the other version?

 If both the parents show the feature determined by the dominant allele, but are heterozygous, they

can produce children that show the feature determined by the recessive allele.

Test Cross

 An experiment to find out if an organism is homozygous or heterozygous for a dominant trait.

 In genetics, a test cross, first introduced by Gregor Mendel, involves the breeding of a

phenotypically dominant individual with a phenotypically recessive individual, in order to

determine the zygosity of the former by analyzing proportions of offspring phenotypes.

 Zygosity can either be heterozygous or homozygous.

 Test crosses involve breeding the individual in question with another individual that expresses a

recessive version of the same trait.

 Test crosses are used to test an individual's genotype by crossing it with an individual of a known

genotype.

 It is also known as back cross.

Example: An individual with a dominant phenotype crossed with a recessive individual producing 6

offsprings with the dominant trait and 5 offsprings with the recessive trait. What is the genotype of the

parent with the dominant phenotype?

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How can we tell if an allele is dominant or recessive?

 By looking at offspring resulting from a particular cross.

 By using information given in a genetic pedigree.

 Pedigree: A diagram setting forth the ancestral history. Females are symbolized by circles

and males by squares.

Dihybrid Cross

 Studying the inheritance of two traits simultaneously

 A genetic cross between two individuals involving two characters

 RRYY X rryy

 F1 =100% round and yellow (RrYy)

 F2 = 9:3:3:1

Test Cross for Dihybrid Cross

 R_Y_ x rryy

 RrYy = All possible phenotypes

 RRYY = All round and yellow

 RRYy = All round and some green some yellow

 RrYY = All yellow and some round some wrinkled\

Types of Dominance

 The concept of dominance was introduced by Gregor Mendel.

 Dominance in genetics is a relationship between alleles of one gene, in which the effect on

phenotype of one allele masks the contribution of a second allele at the same locus.

 Dominance is not inherent: one allele can be dominant to a second allele, recessive to a third allele,

and co-dominant to a fourth.

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 Dominance is unrelated to the nature of the phenotype itself, that is, whether it is regarded as

"normal" or "abnormal," "standard" or "nonstandard," "healthy" or "diseased," "stronger" or

"weaker," or more or less extreme. A dominant allele may account for any of these trait types.

 Dominance does not determine whether an allele is deleterious, neutral or advantageous.

1. Complete dominance

 In complete dominance, the effect of one allele in a heterozygous genotype completely masks the

effect of the other.

 The allele that masks the other is said to be dominant to the latter, and the allele that is

masked is said to be recessive to the former.

 Complete dominance therefore means that the phenotype of the heterozygote is indistinguishable

from that of the dominant homozygote.

2. Incomplete dominance

 The seemingly dominant allele has no complete masking effect over the recessive allele.

 Incomplete dominance (partial dominance) occurs when the phenotype of the heterozygous

phenotype is distinct from and often intermediate to the phenotypes of the homozygous

phenotypes.

 For example, the snapdragon flower color is either homozygous for red or white. When the red

homozygous flower is paired with the white homozygous flower, the result yields a pink

snapdragon flower. The pink snapdragon is the result of incomplete dominance.

3. Co-dominance

 Co-dominance occurs when the contributions of both alleles are visible in the phenotype.

 The phenotype is expressed side-by-side in heterozygote individual.

 The two alleles are both active in that each produce its own phenotype.

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 For example, in the ABO blood group system, chemical modifications to a glycoprotein (the H

antigen) on the surfaces of blood cells are controlled by three alleles, two of which are co-

dominant to each other (IA, IB) and dominant over the recessive IO at the ABO locus.

 AA (Red) x BB (White) → AB (Roan)

4. Overdominance

 Hybrid vigor: The improved or increased function of any biological quality in a hybrid offspring.

 It is a condition in genetics where the phenotype of the heterozygote lies outside the phenotypical

range of both homozygous parents.

 It can also be described as heterozygote advantage, wherein heterozygous individuals have a

higher fitness than homozygous individuals.

5. Underdominance

 In genetics, underdominance is the opposite of overdominance.

 It is the selection against the mean of a population distribution, causing disruptive selection and

divergent genotypes.

 Underdominance can also be described as homozygote advantage, wherein homozygous

individuals have a higher fitness than heterozygous individuals.

Multiple allele inheritance

 If there are 4 or more possible phenotypes for a particular trait, then more than 2 alleles for that

trait must exist in the population. We call this "MULTIPLE ALLELES".

 Mutation is the cause for different forms of a gene

 There may be multiple alleles within the population, but individuals have only two of those alleles.

 An excellent example of multiple allele inheritance is human blood type. Blood type exists as four

possible phenotypes: A, B, AB, & O. When a gene exists in 3 or more allelic forms the condition is

called multiple allelism.

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 Another example is coat color in rabbit (C+, Cch, Ch, and C).

The physical basis of inheritance

 Inheritance occurs when genes are transmitted from parent to offspring.

 The units of inheritance are genes and genes are parts of a chromosome.

 A gene‟s physical location on a chromosome is called its locus.

How chromosomes behave during gamete formation?

 Gametes are formed when special cells in the sex organs divide by meiosis.

 3 outcomes

i. Production of 4 „daughter‟ cells (two divisions)

ii. The daughter cells have one chromosome from each homologous pair.

iii. The daughter cells show genetic variation

 Crossing over of chromosomes in the homologous pair

 Exchange sections of DNA

 During meiosis, chromosomes duplicate

 DNA makes an exact copy

 The original & the copy attached by a centromere

 Chromosomes condense

 Become much shorter and fatter

 Chromosomes of a homologous pair form bivalent

 Chromatids from different chromosomes undergo crossing over

 The chromosomes are moved around

 Spindle fiber contracting and pulling the chromosomes

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Meiosis

 Meiosis is a special type of nuclear division which segregates one copy of each homologous

chromosome into each new "gamete".

 It reduces the number of sets of chromosomes by half, so that when fertilization occurs the ploidy

of the parents will be reestablished.

 Meiosis is characterized by two nuclear divisions, meiosis I and meiosis II. The first division is a

reduction division. The second meiotic division looks like mitosis.

 Each division of meiosis consists of 4 main stages: prophase, metaphase, anaphase, & telophase.

Meiosis I

Prophase I

 chromatin condenses into chromosomes,

 the nucleolus dissolves,

 nuclear membrane is disassembled

 The spindle apparatus forms.

 Crossing-over between homologous chromosomes produces chromosomes with new associations

of genes and alleles.

Metaphase I

 Tetrads line-up along the equator of the spindle.

 Spindle fibers attach to the centromere region of each homologous chromosome pair.

Anaphase I

 The tetrads separate, and are drawn to opposite poles by the spindle fibers.

 The centromeres in Anaphase I remain intact.

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Telophase I

 Depending on species, new nuclear envelopes may or may not form.

 Some animal cells may have division of the centrioles during this phase.

Meiosis II

Prophase II

 • Nuclear envelopes (if they formed during

 Nuclear envelopes (if they formed during Telophase I) dissolve, and spindle fibers reform.

 Indeed Meiosis II is very similar to mitosis.

Metaphase II

 Spindles moving chromosomes into equatorial area and attaching to the opposite sides of the

centromeres.

Anaphase II

 The centromeres split and the former chromatids (now chromosomes) are segregated into opposite

sides of the cell.

Telophase II

 The chromosomes gather into nuclei and the cells divide.

 Each of the 4 cells has a nucleus with a haploid number of chromosomes.

Genetic linkage

 Gene linkage is the phenomenon where genes located on the same chromosome in a eukaryote

tend to be transmitted together.

 The genes are on the same chromosome and therefore do not assort independently into

gametes.

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 In their study of linkage, Bateson and Punnett investigated the inheritance of flower colour (purple

or red) and seed shape (round or long) in sweet peas.

 The alleles are:

 P – purple (dominant)

 p – red (recessive)

 L – long (dominant)

 l – round (recessive)

 We normally would expect the 9:3:3:1 ratio typical of dihybrid inheritance but these are linked

genes and inherited as a single unit.

 Starting from pure-breeding parents which were:

 Purple-flowered with long seeds (PL/PL)

 Red-flowered with round seeds (pl/pl)

 We can predict a 3:1 ratio of purple-flowered, long-seeded plants to red-flowered, round-seeded

plants over two generations using the standard genetic diagram.

 We wouldn‟t predict any plants that had either purple flowers with round seeds or red flowers with

long seeds.

 But some gametes do contain the combination Pl and others contain pL.

 The results from Bateson and Punnett‟s original investigation are summarized as follows:

 284 purple, long

 21 purple, round

 21 red, long

 55 red, round

 Types we would not expect from linked inheritance are produced. These types are called

recombinant types.

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Why recombinant types produced?

 There is some crossing over during prophase of meiosis I.

 Much of the early research on crossing over and recombination was carried out using fruit flies.

Why fruit flies are convenient?

i. They are small animals with a short life cycle.

ii. They are cheap and easy to breed and keep in large numbers.

iii. They have only four pairs of chromosomes per cell.

iv. The chromosomes are large and easily observed.

v. Staining reveals dark bands which correspond to particular genes.

 Using fruit flies in the early 1900s, Morgan proved that genes carried on chromosomes are the

physical basis of inheritance.

 A. H. Sturtevant worked on linkage and crossing over in Drosophila. He made predictions about

what offspring to expect if there was no crossing over and then counted the number of expected

and recombinant types to find the percentage of recombinant types.

 This percentage of recombinant types is called the crossover value and is a measure of how far

apart the genes are on a chromosome.

 A low crossover frequency indicates that the genes are close together; a high one that they are

further apart.

 This has been used in creating gene maps of chromosomes.

Example: Suppose three genes A, B and C have loci on the same chromosome. From investigations,

the crossover values are found to be:

 A and B = 7%

 A and C =5%

 B and C = 12%. Show the way these genes are arranged on the chromosome.
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Cross-breeding and inbreeding crops and stock

1) Cross-breeding

 An established breeding of unrelated lines used to increase overall productivity.

 It has been used throughout the world.

 Production gains are possible.

Reasons for cross-breeding

 to take advantage of hybrid vigor (heterosis)

 Cross-breeding of unrelated lines

 More productive

 Recovery of production loses

 To take advantage of the good qualities of two or more breeds.

 Combination of qualities

 It allows breeds to be chosen for complementary characteristics.

Dairy X Beef → High milk + many calves

2) Inbreeding

 It is the breeding of organisms of the same type.

 Mating with relatives

 It helps to produce a pure line.

 Increases homozygosity.

 It often reduces the productivity of the line.

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 Sex determination system

 A sex-determination system is a biological system that determines the development of sexual

characteristics in an organism.

 Most organisms that create their offspring using sexual reproduction have two sexes. Occasionally,

there are hermaphrodites in place of one or both sexes.

 There are also some species that are only one sex due to parthenogenesis, the act of a female

reproducing without fertilization.

 In many species, sex determination is genetic: males and females have different alleles or even

different genes that specify their sexual morphology. In animals this is often accompanied by

chromosomal differences, generally through combinations of XY, ZW, XO, ZO chromosomes, or

haplodiploidy.

 In other cases, sex is determined by environmental variables (such as temperature) or social

variables (e.g. the size of an organism relative to other members of its population).

 Environmental sex determination preceded the genetically determined systems of birds and

mammals; it is thought that a temperature-dependent amniote was the common ancestor of

amniotes with sex chromosomes.

 Some species do not have a fixed sex, and instead change sex based on certain cues.

 The details of some sex-determination systems are not yet fully understood.

Sex determination in human

 Sex is determined by the X and Y chromosomes.

 Males have XY chromosome and they are the heterogametic sex.

 Females have XX chromosome and they are the homogametic sex.

 The predicted ratio of males to females is 1:1.

 It is the Y-chromosome that appears to determine a person‟s sex.

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 SRY gene on Y-chromosome determines the formation of testes.

 Urogenital ridge develops into a „bi-potential gonad‟ and can develop into either ovary or

testis.

 When the SRY gene is absent the bi-potential gonad develops into an ovary.

Nondisjunction of the Sex Chromosomes

 When sex chromosomes do not separate successfully to opposite poles during meiosis.

 One of the gametes lacking a chromosome and the other having an extra chromosome.

 Two Types:

a) Nondisjunction of the X chromosome.

b) Nondisjunction of the Y chromosome.

a) Nondisjunction of the X

1. “Super Females” XXX

 With one functional X and two Barr bodies;

 Sterile but appears normal.

2. XXY- Klinefelter Syndrome

 Sterile male with female characteristics,

 Some mental retardation;

 Underdeveloped male characteristics;

 Occurs in 1/ 500 male births.

3. OY - Without an X chromosome!

 Zygote is inviable; all humans require at least one copy of the X chromosome.

4. XO - Turner Syndrome

 Sterile female, short stature, webbed neck, & immature sex organs.

 Lower I.Q.; occurs in 1/ 5,000 female births.

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b) Nondisjunction in Male

“Super Males” XYY

 Fertile males of normal appearance

 Above average height.

 Sometimes (but not always) retarded.

 May be correlation with delinquency (?)

 Occurs in 1/ 1,000 male births.

Other Systems of Sex Determination

Birds

 In birds, sex is determined by chromosomes known as the Z and W, and females are the

heterogametic sex.

 Working with chickens, scientists were unable to find a counterpart of the SRY gene required for

mammalian testis determination, so they searched for homologues of other genes that were

required for testis formation in mammals. These investigations led to the discovery of the DMRT1

gene on the chicken Z chromosome.

 Like mammals, chickens also have an indifferent gonad until around day four of development,

after which an ovary or a testis starts to develop. Hormones then orchestrate the development of

other sex-specific characteristics.

 In contrast with mammals, however, estrogen is required earlier in sex determination in chickens,

and is, in fact, necessary for formation of the ovary. In fact, genetically male chickens can be

converted to females if eggs are injected with estrogen at the sensitive stage of development.

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 The ZZ-ZW mechanism of sex determination is not restricted to birds. Within the vertebrates, a

similar system of sex determination has been identified in reptiles, as well as in some fishes and

amphibians.

Reptiles

 Sex-determining mechanisms in reptiles are broadly divided into two main categories: genotypic

sex determination (GSD) and temperature-dependent sex determination (TSD).

 While the sex of most snakes and most lizards is determined by sex chromosomes at the time of

fertilization, the sex of most turtles and all species of crocodilians is determined by the

environment after fertilization.

 Species in the genotypic group, like mammals and birds, have sex chromosomes which come in

two major types.

 Many species-such as several species of turtle and lizards, like the green iguana-have X and Y sex

chromosomes (again, like mammals), with females being "homogametic," that is, having two

identical X chromosomes. Males, on the other hand, are "heterogametic," with one X chromosome

and one Y chromosome.

 Other reptiles governed by GSD have a system, similar to one found in birds, with Z and W sex

chromosomes. In this case-which governs all snake species-males are the homogametic sex (ZZ)

and females are the heterogametic sex (ZW).

 In temperature-dependent sex determination, however, it is the environmental temperature during a

critical period of embryonic development that determines whether an egg develops as male or

female.

 In most turtles and all species of crocodilians, the temperature of the eggs during a certain period

of development is the deciding factor in determining sex, and small changes in temperature can

cause dramatic changes in the sex ratio. Often, eggs incubated at low temperatures (22–27°C)

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 produce one sex, whereas eggs incubated at higher temperatures (30°C and above) produce the

other.

 There is only a small range of temperatures that permits both males and females to

hatch from the same brood of eggs.

 The thermosensitive period occurs after the egg has been laid, so sex determination in these

reptiles is at the mercy of the ambient conditions affecting egg clutches in nests. For example, in

many turtle species, eggs from cooler nests hatch as all males, and eggs from warmer nests hatch

as all females.

 In crocodilian species - the most studied of which is the American alligator - both low and high

temperatures result in females and intermediate temperatures select for males.

Amphibians

 There are two heterogametic types (XX/XY and ZZ/ZW) for genetic sex determination in

amphibians.

 Though the original heterogametic sex was female in amphibians, the two heterogametic types

were probably interchangeable, suggesting that sex chromosomes evolved several times in this

lineage.

 Regardless of the presence of a sex-determining gene in amphibians, the gonadal sex of some

species can be changed by sex steroids. Namely, sex steroids can induce the sex reversal, with

estrogens inducing the male-to-female sex reversal, whereas androgens have the opposite effect.

Insects

 Insects are the most diverse class of organisms on the planet, so it is not too surprising that they

show considerable diversity in their mechanisms of sex determination. However, like most other

animals, the majority of insects have dimorphic sex chromosomes that can be distinguished

cytologically.

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 Animals with two different sex chromosomes are of heterogametic sex, and they are thus able to

produce two types of gametes. Conversely, members of the homogametic sex can only produce

one type of gamete.

 In humans (as well as many other animals), males generally have one X and one Y chromosome,

while females have two X chromosomes.

 In butterflies and moths, females are the heterogametic sex while males are homogametic. The sex

chromosomes are designated W and Z. W chromosome is usually associated with the development

of female characteristics.

 When the W chromosome is absent, ZZ develops into males and ZO develop into

females.

 Having a W chromosome to develop as a female isn't even a necessity for some species.

 A moth known as Talaeporia tubulosa uses the ambient temperature to control sex determination

in the absence of W chromosome.

 Some grasshoppers also use a single-chromosome (XX/XO) sex determination system; here, males

have only one sex chromosome, so they are considered to be XO. Thus, males are the

heterogametic sex, because they produce two different kinds of gametes.

 The system of chromosomal sex determination is even further reduced in certain genera of

mosquitoes, in which the two sexes are chromosomally indistinguishable. Sex in this homogametic

group is thought to be determined by a dominant male-determining factor.

 The sex chromosomes of the fruit fly Drosophila melanogaster have played a particularly

important role in our understanding of heredity. Therefore, it may come as a surprise that fruit flies

use a relatively rare mechanism to determine sex.

 In fact, in Drosophila, sex is primarily determined by the X:A ratio, or the ratio of the number of X

chromosomes to the number of sets of autosomes. The balance between female-determining

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 factors encoded on the X chromosome and male-determining factors encoded on the autosomes

determines which sex-specific pattern of transcription will be initiated.

 XX, XXY, and XXYY flies are females, while XY and XO flies are males.

 Sex determination begins immediately at fertilization, and there is no indifferent period.

Furthermore, hormones are not responsible for sex-specific traits; instead, each cell in the embryo

senses the X:A ratio, triggering either the female- or male-specific pattern of transcription.

Snails

 Some start out male, and then become female.

Tropical clown fish

 The dominant individual in a group becomes female.

Blue wrasse fish

 The dominant individual in a group becomes male.

Earthworm

 Hermaphrodites

The Genes on the Sex Chromosomes

 Genes that are found only on the X chromosome or on the Y chromosome are said to be sex-

linked.

 Since both X and Y are sex chromosomes, three different patterns of inheritance are possible:

1. X-linked

 In human beings, at least four hundred loci are known to be on the X chromosome.

 Genes found only on the X chromosome include those that determine red-green colour blindness

and one form of haemophilia.

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X-linked recessive inheritance

 Most affected individuals are male.

 Affected males result from mothers who are affected or who are known to be carriers

(heterozygotes) because they have affected brothers, fathers, or maternal uncles.

 Affected females come from affected fathers and affected or carrier mothers.

 The sons of affected females should be affected.

 Approximately half the sons of carrier females should be affected.

X-linked dominant inheritance

 The trait does not skip generations.

 Affected males must come from affected mothers.

 Approximately half the children of an affected heterozygous female are affected.

 Affected females come from affected mothers or fathers.

 All the daughters, but none of the sons, of an affected father are affected.

2. Y - linked

 Only a few loci are known to be on the Y chromosome.

 Control traits found only in males.

 Genes found only on the Y chromosome include those that determine retinitis pigmentosa and one

form of deafness.

3. Pseudoautosomal

 Loci found on both the X and Y chromosomes.

Sex - influenced trait

 A trait controlled by a pair of alleles found on the autosomal chromosomes but its phenotypic

expression is influenced by the presence of certain hormones.

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  Estrogen, Progesterone, Testosterone

 A trait more likely to occur in one sex but may sometimes occur in the other sex.

 Sex – influenced traits can be seen in both sexes, but will vary in frequency between the sexes, or

in the degree of the phenotypic expression.

 Pattern baldness can occur in both males and females; however it is much more common in males

because the pattern baldness trait is influenced by the hormone testosterone.

 Although baldness is not as common in women as in men, the psychological effects of hair loss

tend to be much greater.

 Typically the frontal hairline is preserved but the density of hair is decreased on all areas of the

scalp in women.

 Previously it was believed to be caused by testosterone just as in male baldness, but most women

who lose hair have normal testosterone levels.

Sex-limited traits

 Traits expressed in one sex

 Genes present in both sexes.

 Turned on in only one sex.

 Responsible for sexual dimorphism

 Example: Genes that stimulate lactation.

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 3. MOLECULAR GENETICS

 The field of genetics that studies the structure and function of genes at a molecular level.

 Molecular genetics employs the methods of genetics and molecular biology to elucidate molecular

function and interactions among genes.

What is a chromosome really like?

 It is made from two chemicals:

i. DNA

ii. Histone

 It is much smaller, circular and no histone in prokaryotes.

 It becomes visible during cell division.

i. DNA

 DNA (Deoxyribonucleic acid) is a chemical structure that forms chromosomes.

 A piece of a chromosome that dictates a particular trait is called a gene.

 Structurally, DNA is a double helix: two strands of genetic material spiraled around each other.

 The two strands of DNA are connected at each base. Each base will only bond with one other base,

as follows: Adenine (A) will only bond with thymine (T), and guanine (G) will only bond with

cytosine (C).

 DNA is found inside a special area of the cell called the nucleus.

 Because the cell is very small, and because organisms have many DNA molecules per cell, each

DNA molecule must be tightly packaged.

 This packaged form of the DNA is called a chromosome.

 DNA is made of chemical building blocks called nucleotides. These building blocks are made of

three parts: a phosphate group, a sugar group and one of four types of nitrogen bases.

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 To form a strand of DNA, nucleotides are linked into chains, with the phosphate and sugar groups

alternating.

 The German biochemist Frederich Miescher first observed DNA in 1869. But nearly a century

passed from that discovery until researchers unraveled the structure of the DNA molecule and

realized its central importance to biology.

DNA Replication

 One of the most important mechanisms for all cells to give offsprings is undoubtedly the DNA

replication.

 DNA molecules exist within chromosomes in the nucleus and are surrounded by a „soup‟ of free

DNA nucleotides.

 The DNA strands unwind and each strand serves as a template for the replication. So both of the

new copies of DNA contain half of the old DNA and half of newly synthesized DNA.

 It was found in 1957 by Meselson and Stahl that DNA followed the semiconservative

model.

 Thus, each DNA molecule after replication would consist of one of the original strands plus one

newly synthesized strand. This model of DNA replication is called semiconservative.

Steps of DNA replication

1. The first major step for the DNA replication to take place is the breaking of hydrogen bonds

between bases of the two antiparallel strands.

 DNA Helicase is the enzyme that splits the two strands.

2. Molecules of DNA polymerase follow the helicase along each single-stranded region, which acts

as a template for the synthesis of a new strand.

3. The DNA polymerase assembles free DNA nucleotides into a new strand alongside each of the

template strands.

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4. The processes of unwinding followed by complementary strand synthesis progresses along the

whole length of the DNA molecule.

5. The result is two DNA molecules that are identical to each other.

How are organisms cloned?

 Cloning is the process of making identical genomic copies of an original organism.

 A clone of an organism is a group of organisms that are genetically identical to each other and to

the organism from which they were derived.

 The term clone is often applied to whole organisms as well as to genes.

Cloning plants

 It is relatively easy to clone plants.

 More plant cells retain the ability to divide than the case in animals.

Cloning plants by taking cuttings

 Just cut off a region of a stem near to a bud.

 Remove some of the leaves.

 Dip the cut end in some hormone rooting powder.

 Plant the cutting in some compost.

 Keep the cutting well watered.

Micropropagation

 Produce a clone of thousands of identical plants from just one parent plant.

Procedure

 A small section of the growing point of a shoot is taken and sub-divided.

 Groups of a few hundred cells are placed in test tubes containing a special medium with hormones

that induce root growth.

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 Transfer to another medium containing hormones to induce shoot growth.

 The small plantlets are transferred to a compost and grown on.

 Thousands of identical plants are produced.

Cloning Animals

 The first mammal to be cloned was dolly the sheep.

 Dolly (5 July 1996 - 14 February 2003) was a female domestic sheep, and the first mammal to be

cloned from an adult somatic cell, using the process of nuclear transfer.

 She was cloned by Ian Wilmut, Keith Campbell and colleagues at the Roslin Institute near

Edinburgh in Scotland.

Legacy

 Many other large mammals have been cloned, including horses and bulls.

 The reprogramming process cells need to go through during cloning is not perfect and embryos

produced by nuclear transfer often show abnormal development.

 Making cloned mammals is highly inefficient (Dolly was the only lamb that survived to adulthood

from 277 attempts).

 Wilmut, who led the team that created Dolly, announced in 2007 that the nuclear transfer

technique may never be sufficiently efficient for use in humans.

Procedure in cloning mammals

 Transfer of a diploid nucleus to an egg cell that has been enucleated.

 Stimulation of the egg cell to divide by a small electric current.

 When development reaches blastocyst stage, the embryo is implanted into a surrogate mother.

Cloning Human

 There are many issues involved here and different people hold very strong views for and against

human cloning.
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 At the moment it is illegal throughout the world.

 Should it stay that way forever, or is that just placing an obstacle in the way of scientific progress?

Pros and Cons of Cloning

PROS

 Produce animals with desirable traits.

 Increase the efficiency of the livestock production.

 Offset losses of among endangered species populations.

 Enable better research for finding cures to many diseases.

 Provide children for parents who would like a child but can't have one for various reasons.

 Provide parents with an opportunity to clone a child who has died.

CONS

 Decline in genetic diversity.

 Taking nature into our own hands.

 Religious and moral reasons.

 Physical problems, such as birth defects.

 Possibility of mental and emotional problems of the clone.

Genetic Fingerprinting

 A technique that allows us to see differences in DNA fragments from one person to another.

 Mini-satellites form the basis of a genetic fingerprint.

 DNA can be obtained from any cell that has nucleus.

 The amount of DNA can be amplified using PCR.

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 Stages

1. Isolating the DNA in question from the rest of the cellular material in the nucleus.

2. Cutting the DNA into several pieces of different size and denaturing the DNA, so that the entire

DNA is rendered single-stranded.

3. Sorting DNA pieces by size using gel electrophoresis.

4. The pattern of separated DNA fragments is transferred from the gel to a nylon membrane.

5. A radioactive gene probe is used in hybridization reaction with the DNA in question

6. X- ray is taken after a radioactive probe has been allowed to bond with the denatured DNA.

 Only the areas where the radioactive probe binds will show up on the film.

Uses of DNA Profiling

 DNA profiling is used to solve crimes and medical problems

i. DNA Profiling can solve crimes

 Forensic science is the use of scientific knowledge in legal situations.

 The DNA profile of each individual is highly specific.

 The chance of two people having exactly the same DNA profile is 30,000 million to 1

(except for identical twins).

 Biological materials used for DNA profiling are blood , hair, saliva, semen, body tissue cells and

DNA samples obtained from vaginal cells transferred to the outside of a condom during sex.

 The pattern of the DNA profile is then compared with those of the victim and the suspect.

 If the profile matches the suspect it provides strong evidence that the suspect was present at the

crime scene (NB: it does not prove they committed the crime).

 If the profile doesn‟t match the suspect then that suspect may be eliminated from the enquiry.

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ii. Solving Medical Problems

 DNA profiles can be used to determine whether a particular person is the parent of a child.

 A child‟s father & mother can be determined.

 This information can be used in Paternity suits, Inheritance cases and Immigration cases.

 By comparing the DNA profile of a mother and her child it is possible to identify DNA fragments

in the child which are absent from the mother and must therefore have been inherited from the

biological father.

Moral and ethical considerations of using gene technology

 A species is sacrosanct & should not be altered genetically in any way.

 Not enough is known about the long-term ecological effects of introducing GMO‟s.

 Gene could „jump‟ into other populations.

 It gives doctors the ability to create designer babies.

 Using genetic fingerprinting to combat crime will only be useful if there is a genetic database.

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 4. PROTEIN SYNTHESIS

 Protein synthesis is the process whereby biological cells generate new proteins; it is balanced by

the loss of cellular proteins via degradation or export.

 Proteins are assembled from amino acids using information encoded in genes.

 Each protein has its own unique amino acid sequence that is specified by the nucleotide sequence

of the gene encoding this protein.

How does a cell „know‟ to make a protein?

 The code for a protein is specified by DNA.

 DNA remains in the nucleus

 Protein synthesis is carried in ribosomes

Events

 Transcription: Conversion of a DNA code into an mRNA code

 mRNA travels from the nucleus to the ribosomes

 tRNA carry free amino acids from the cytoplasm to the ribosomes.

 Translation: mRNA code is converted into a sequence of amino acids

General properties of the genetic code

1. Genetic code is triplet.

 Singlet and doublet codons cannot form 20 combinations

2. Genetic code is degenerate

 More codons than the amino acids

 More than one codon may specify the same amino acid

 Such different codons that specify the same amino acid are called synonymous codons.

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3. Genetic code is non-overlapping.

 During translation, the codons are read one after another, in a sequence.

4. Genetic code is universal

 The same genetic code is applicable to all organisms.

 The codons have the same meaning in all the organisms.

How does transcription take place in eukaryotic cells?

1. RNA polymerase binds with a section of DNA next to the gene to be transcribed.

2. Transcription factors activate the enzyme

3. The enzyme begins to „unwind‟ a section of DNA.

 RNA polymerase moves along the antisense strand, using it as a template for synthesizing the

mRNA.

4. The polymerase assembles free RNA nucleotides

5. The completed molecule leaves the DNA; the strands of DNA rejoin and recoil

How does translation take place?

1. The first two codons of the mRNA enter the ribosome.

2. tRNA that have complementary anticodons to the first two codons of the mRNA bind to those

codons.

3. A peptide bond forms between the amino acids carried by these two tRNA molecules.

4. The ribosome moves along the mRNA by one codon, bringing the third codon into the ribosome.

5. A tRNA with a complementary anticodon binds with the third codon.

6. A peptide bond forms between the second and third amino acids.

7. The ribosome moves along the mRNA by one codon, repeated until a „stop‟ codon.

 The translation of the code into a protein molecule requires GTP.

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How is protein synthesis different in prokaryotic cells?

 mRNA does not need post-transcriptional processing.

 Transcription and translation are coupled.

What controls gene expression?

 All genes aren‟t active all the time.

How are genes switched on?

 By transcription factors

 Proteins that bind to a regulatory sequence of DNA near to the gene they influence.

a) Bind to a promoter sequence of DNA near to the gene to be activated.

b) RNA polymerase binds to the DNA/transcription factor complex.

c) The RNA polymerase is „activated‟ and moves away from the DNA/transcription factor complex

along the gene.

d) The RNA polymerase transcribes the antisense strand of the DNA as it moves along.

How are genes switched off?

 By short interfering RNA (siRNA)

 only about 21 to 23 nucleotides long and double stranded

 do not act on the gene itself

 Silence the mRNA (no translation!)

a) Double stranded RNA (dsRNA) is produced in the nucleus from a range of genes

b) dsRNA splits into siRNA by an enzyme called „Dicer‟.

c) The antisense strand of the siRNA then binds with a complex of molecules called RISC (RNA-

induced silencing complex)

d) The siRNA binds with mRNA and allows RISC to cleave the mRNA into small fragments.

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 5. MUTATIONS

 A mutation is a permanent alteration of the nucleotide sequence of the genome of an organism,

virus, or extrachromosomal DNA or other genetic elements.

 Mutations result from damage to DNA which is not repaired, errors in the process of replication, or

from the insertion or deletion of segments of DNA by mobile genetic elements.

 Mutations may or may not produce visible changes in the observable characteristics (phenotype) of

an organism.

 Mutations play a part in both normal and abnormal biological processes including: evolution,

cancer, and the development of the immune system, including junctional diversity.

 Mutation can result in many different types of change in sequences.

 Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from

functioning properly or completely.

 Mutations can also occur in nongenic regions.

 Due to the damaging effects that mutations can have on genes, organisms have mechanisms such

as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its

original state.

 It can be point mutation or chromosomal mutation.

I. Point Mutation

 A point mutation, or single base modification, is a type of mutation that causes a single nucleotide

base change, insertion, or deletion of the genetic material, DNA or RNA.

 The term frameshift mutation indicates the addition or deletion of a base pair.

 Point mutations that occur within the protein coding region of a gene may be classified into three

kinds, depending upon what the erroneous codon codes for:

a) Silent mutations, which code for the same (or a sufficiently similar) amino acid.

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 b) Missense mutations, which code for a different amino acid.

c) Nonsense mutations, which code for a stop codon and can truncate the protein.

 The different point mutations are:

a) Substitution

 One base is replaced by a different base

 It can result in a „stop triplet.

 Shortening of protein

b) Addition

 An extra base is added

 It is more significant mutation.

 The whole sequence after the point of the mutation is altered

 Frameshift mutations

 Totally different mRNA is produced

c) Deletions

 A base is „missed out‟ during replication

Causes of point mutations

 They occur spontaneously and randomly

 mistakes during replication

 most are detected and repaired

 95 % of our DNA is non - coding

 The factors that increase the rate of mutation include carcinogenic chemicals and high-energy

radiation.

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Consequences of gene mutations

 Somatic mutations have one of the four possible consequences:

 completely harmless

 damage the cell

 kill the cell

 make the cell cancerous

 Somatic mutations will affect no other person

 Mutations in sex cell may be passed onto the next generation

 Mutations in different genes will obviously produce different effects

 Proto-oncogens = regulating cell division

 Tumor suppressor genes = prevent the formation of a tumor

II. Chromosome mutations

 Change in the arrangement or structure of the chromosome

 Occur most often during meiosis

 Much bigger events than point mutations

 Usually result in the death of a cell

a) Inversion

 An area of DNA on a chromosome reverses its orientation

b) Deletion

 A decrease in the number of genes due to loss of a large section of a chromosome.

c) Insertion

 An increase in the number of genes

 Caused when an equal crossover happens during meiosis.

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d) Duplications

 Genes are displayed twice on a single chromosome

 Usually harmless

e) Chromosome non-disjunction

 Homologous chromosomes do not separate successfully to opposite poles during meiosis

f) Translocations

 A piece of one chromosome is transferred to another non-homologous chromosome.

Can mutations benefit an organism?

 The raw material of evolution

 The only process that creates new genes

 It can give bacteria resistance to a specific antibiotic

 Swap antibiotic resistance genes

 Conjugation = through a special conjugation

 Transduction = a virus carries the plasmid

 Transformation= absorption from dead bacterium.

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 GLOSSARY

Adenine: A nitrogenous base, one member of the base pair A-T (adenine-thymine).

Allele: One of two or more DNA sequences occurring at a particular gene locus.

Autosome: A chromosome not involved in sex determination. The diploid human genome consists of

46 chromosomes, 22 pairs of autosomes, and 1 pair of sex chromosomes (the X and Y chromosomes).

Base pair: Two nitrogen-containing bases pair together between double-stranded DNA; only specific

combinations of these bases (e.g., adenine with thymine; guanine with cytosine) are possible.

Centromere: A specialized chromosome region to which spindle fibers attach during cell division.

Chromatid: The two identical halves of a chromosome produced for cell division and meiosis.

Chromosome: A thread-like structure located inside the nucleus of animal and plant cells. Each

chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA).

Clone: An identical copy of a DNA sequence or entire gene; one or more cells derived from and

identical to a single ancestor cell OR to isolate a gene or specific sequence of DNA.

Cloning: The process of asexually producing a group of cells (clones), all genetically identical, from a

single ancestor. In recombinant DNA technology, the use of DNA manipulation procedures to produce

multiple copies of a single gene or segment of DNA is referred to as cloning DNA.

Codon: In DNA or RNA, a sequence of 3 consecutive nucleotides that codes for a specific amino acid

or signals the termination of gene translation (stop or termination codon).

Cross breeding: To produce an organism by the mating of individuals of different breeds, varieties, or

species.

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Crossing over: The breaking during meiosis of one maternal and one paternal chromosome, the

exchange of corresponding sections of DNA, and the rejoining of the chromosomes. This process can

result in an exchange of alleles between chromosomes.

Crossover value: The percentage of offspring showing recombination among the total offspring of a

given cross. It indicates the amount of crossing over that has occurred.

Cytosine: A nitrogenous base, one member of the base pair G-C (guanine and cytosine).

Dicer: It is an enzyme that in humans is encoded by the DICER1 gene. Dicer cleaves double-stranded

RNA (dsRNA) and pre-microRNA (pre-miRNA) into short double-stranded RNA fragments called

small interfering RNA and microRNA, respectively. Dicer facilitates the activation of the RNA-

induced silencing complex (RISC), which is essential for RNA interference.

Dihybrid cross: A cross between two pure lines (varieties, strains) that differ in two observed traits.

Diploid: A full set of genetic material, consisting of paired chromosomes one chromosome from each

parental set. Most animal cells except the gametes have a diploid set of chromosomes.

DNA helicase: It is used to separate strands of a DNA double helix or a self-annealed RNA molecule

using the energy from ATP hydrolysis, a process characterized by the breaking of hydrogen bonds

between annealed nucleotide bases.

DNA: The molecular basis of heredity; encodes the genetic information responsible for the

development and function of an organism and allows for transmission of that genetic information from

one generation to the next. The DNA molecule is structured as a double-stranded helix held together

by weak hydrogen bonds between purine-pyrimidine nucleotide base pairs: adenine (A) paired with

thymine (T), and guanine (G) paired with cytosine (C).

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Endonuclease: A protein that recognizes specific, short nucleotide sequences and cuts DNA at those

sites. Bacteria contain over 400 such enzymes that recognize and cut over 100 different DNA

sequences.

Exon: The sequence of DNA present in mature messenger RNA, some of which encodes the amino

acids of a protein. Most genes have multiple exons with introns between them.

Frameshift mutation: An insertion or deletion involving a number of base pairs that is not a multiple

of three, which consequently disrupts the triplet reading frame of a DNA sequence. Such mutations

usually lead to the creation of a premature termination (stop) codon, and result in a truncated (shorter-

than-normal) protein product.

Gamete: Mature male or female reproductive cell (sperm or ovum) with a haploid set of

chromosomes.

Gel electrophoresis: A method for separation and analysis of macromolecules (DNA, RNA and

proteins) and their fragments, based on their size and charge.

Gene: The basic unit of heredity that occupies a specific location on a chromosome. Each consists of

nucleotides arranged in a linear manner. Most genes code for a specific protein or segment of protein

leading to a particular characteristic or function.

Genetic code: The sequence of nucleotides, coded in triplets (codons) along the mRNA that

determines the sequence of amino acids in protein synthesis. The DNA sequence of a gene can be used

to predict the mRNA sequence, and the genetic code can in turn be used to predict the amino acid

sequence.

Genetic fingerprinting: It is a technique which uses the individuality of DNA molecules to

distinguish between organisms, or to show the relationships between them. Also known as DNA

profiling.

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Genotype: At its broadest level, genotype includes the entire genetic constitution of an individual. It is

often applied more narrowly to the set of alleles present at one or more specific loci.

GMO: A living organism whose genetic material has been artificially manipulated in a laboratory

through genetic engineering.

Guanine: A nitrogenous base, one member of the base pair G-C (guanine and cytosine).

Haploid: A single set of chromosomes (half the full set of genetic material), present in the egg and

sperm cells of animals and in the egg and pollen cells of plants.

Heredity: The passing of familial elements from one generation to the next.

Hermaphrodite: An organism that has reproductive organs normally associated with both male and

female sexes.

Heterosis: The phenomenon that progeny of diverse varieties of a species or crosses between species

exhibit greater biomass, speed of development, and fertility than both parents.

Heterozygous genotype: Occurs when the two alleles at a particular gene locus are different. A

heterozygous genotype may include one normal allele and one mutation, or two different mutations.

The latter is called a compound heterozygote.

Histone: It is highly alkaline protein found in eukaryotic cell nuclei that package and orders the DNA

into structural units called nucleosomes. It is the chief protein components of chromatin, acting as

spools around which DNA winds, and playing a role in gene regulation

Homozygous genotype: Occurs when both alleles at a particular gene locus are the same. A person

may be homozygous for the normal allele or for a mutation.

Inbreeding: Mating or breeding of individuals or organisms that are closely related genetically.

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Intron: The sequence of DNA in between exons that is initially copied into RNA but is cut out of the

final RNA transcript and therefore does not change the amino acid code. Some intronic sequences are

known to affect gene expression.

Inversion: A chromosomal defect in which a segment of the chromosome breaks off and reattaches in

the reverse direction.

Karyotype: The number and appearance of chromosomes in the nucleus of an eukaryotic cell. The

term is also used for the complete set of chromosomes in a species, or an individual organism.

Klinefelter syndrome: It is the set of symptoms that result from two or more X chromosome in

males. The primary feature is sterility.

Law of independent assortment: The principle, originated by Gregor Mendel, stating that when two

or more characteristics are inherited, individual hereditary factors assort independently during gamete

production, giving different traits an equal opportunity of occurring together.

Law of segregation: The principle, originated by Gregor Mendel, stating that during the production of

gametes the two copies of each hereditary factor segregate so that offspring acquire one factor from

each parent.

Linkage map: A map of the relative positions of genetic loci on a chromosome, determined on the

basis of how often the loci are inherited together. Distance is measured in centimorgans (cM).

Linkage: The tendency for genes or segments of DNA closely positioned along a chromosome to

segregate together at meiosis, and therefore be inherited together.

Locus: The physical site or location of a specific gene on a chromosome.

Meiosis I: The first of the two consecutive divisions of the nucleus of eukaryotic cell during meiosis,

and composed of the following stages: prophase I, metaphase I, anaphase I, and telophase I.

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Meiosis II: It is the second meiotic division, and usually involves equational segregation, or

separation of sister chromatids. Mechanically, the process is similar to mitosis, though its genetic

results are fundamentally different.

Micropropagation: The practice of rapidly multiplying stock plant material to produce a large

number of progeny plants, using modern plant tissue culture methods. It is used to multiply noble

plants such as those that have been genetically modified or bred through conventional plant breeding

methods.

Missense mutation: A single base pair substitution that alters the genetic code in a way that produces

an amino acid that is different from the usual amino acid at that position. Some missense mutations

will alter the function of the protein.

Monohybrid cross: A mating between two individuals with different alleles at one genetic locus of

interest.

mRNA: RNA that serves as a template for protein synthesis.

Mutation: A change in the usual DNA sequence at a particular gene locus. Mutations (including

polymorphisms) can be harmful, beneficial, or neutral in their effect on cell function.

Nonsense mutation: A mutation that alters the genetic code in a way that causes the premature

termination of a protein. The altered protein may be partially or completely inactivated, resulting in a

change or loss of protein function.

Nucleotide: A molecule consisting of a nitrogen-containing base (adenine, guanine, thymine, or

cytosine in DNA; adenine, guanine, uracil, or cytosine in RNA), a phosphate group, and a sugar

(deoxyribose in DNA; ribose in RNA). DNA and RNA are polymers comprised of many nucleotides,

strung together like beads in a necklace.

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Oncogene: A gene, one or more forms of which is associated with cancer. Many oncogenes are

involved, directly or indirectly, in controlling the rate of cell growth.

PCR: A procedure that produces millions of copies of a short segment of DNA through repeated

cycles of: (1) denaturation, (2) annealing, and (3) elongation. PCR is a very common procedure in

molecular genetic testing and may be used to generate a sufficient quantity of DNA to perform a test

(e.g., allele-specific amplification, trinucleotide repeat quantification).

Pedigree: A graphic illustration of family history.

Point mutation: An alteration in a DNA sequence caused by the substitution of a single nucleotide for

another nucleotide.

Polymerase: Enzymes that catalyze the synthesis of nucleic acids on preexisting nucleic acid

templates.

Primer: Short preexisting polynucleotide chain to which new deoxyribonucleotides can be added by

DNA polymerase.

Probe: Single-stranded DNA or RNA molecules of specific base sequence, labeled either

radioactively or immunologically, that are used to detect the complementary base sequence by

hybridization.

Promoter: A site on DNA to which RNA polymerase will bind and initiate transcription.

Purine: A nitrogen-containing, single-ring, basic compound that occurs in nucleic acids. The purines

in DNA and RNA are adenine and guanine.

Pyrimidine: A nitrogen-containing, double-ring, basic compound that occurs in nucleic acids. The

pyrimidines in DNA are cytosine and thymine; in RNA, cytosine and uracil.

Reciprocal cross: A pair of crosses between a male of one strain and a female of another, and vice

versa.

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RNA: It is a linear molecule composed of four types of smaller molecules called ribonucleotides. Each

ribonucleotide consists of a ribose sugar, a phosphate group, and a nitrogenous base.

RNA-induced silencing complex (RISC): A multiprotein complex, specifically a ribonucleoprotein,

which incorporates one strand of a double-stranded RNA (dsRNA) fragment, such as small interfering

RNA (siRNA) or microRNA (miRNA).

rRNA: The RNA component of the ribosome, and is essential for protein synthesis in all living

organisms.

siRNA: A synthetic RNA duplex designed to specifically target a particular mRNA for degradation.

Southern blotting: Transfer by absorption of DNA fragments separated in electrophoretic gels to

membrane filters for detection of specific base sequences by radio labeled complementary probes.

Test cross: It involves the breeding of a phenotypically dominant individual with a phenotypically

recessive individual, in order to determine the zygosity of the former by analyzing proportions of

offspring phenotypes. Zygosity can either be heterozygous or homozygous.

Thymine: A nitrogenous base, one member of the base pair A-T (adenine-thymine).

Transcription factors: They are proteins involved in the process of converting, or transcribing, DNA

into RNA. Transcription factors include a wide number of proteins, excluding RNA polymerase that

initiate and regulate the transcription of genes.

Transcription: The process of synthesizing messenger RNA (mRNA) from DNA.

Transfer RNA (tRNA): A class of RNA having structures with triplet nucleotide sequences that are

complementary to the triplet nucleotide coding sequences of mRNA. The role of tRNAs in protein

synthesis is to bond with amino acids and transfer them to the ribosomes, where proteins are

assembled according to the genetic code carried by mRNA.

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Translation: The process of synthesizing an amino acid sequence (protein product) from the

messenger RNA code.

Translocation: A type of chromosomal abnormality in which a chromosome breaks and a portion of it

reattaches to a different chromosomal location.

Trisomy: The presence of an extra chromosome, resulting in a total of three copies of that

chromosome instead of the normal 2 copies (e.g., trisomy 21, or Down syndrome).

True breeding organism: An organism that always passes down certain phenotypic traits (i.e.

physically expressed traits) to its offspring.

Turner syndrome: It is a condition in which a female is partly or completely missing an X

chromosome.

Uracil: One of the four nucleobases in the nucleic acid of RNA. In RNA, uracil binds to adenine via

two hydrogen bonds. In DNA, the uracil nucleobase is replaced by thymine.

Zygosity: The degree of similarity of the alleles for a trait in an organism.

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 UEE on Genetics (2003 – 2011)

1. Which one of the following refers to a change in a gene? (2003)

(A) Mutation (C) Protein synthesis

(B) Replication (D) Transcription

2. How many daughter cells are produced from a single mitotic division? (2003)

(A) Two (C) Six

(B) Four (D) Eight

3. Which of the following molecules requires a template molecule for its synthesis? (2003)

(A) Cellulose (C) Protein

(B) Starch (D) Glycogen

4. In the life cycle of sexually reproducing organisms, which of the following processes restores

the chromosome number from haploid to diploid state? (2003)

(A) Fertilization (C) Chromosome replication

(B) Meiosis (D) Mitosis

5. In plant hybridization experiment, which one of the following is the best way to prevent self-

pollination? (2003)

(A) To remove the stamens (C) To cross – pollinate flowers

(B) To cover flowers with bag (D) To make reciprocal crosses

6. Among the following choices, identify the ones that have identical DNA fingerprints? (2003)

(A) Parents and children (C) Fraternal twins

(B) Non – twin sibs (D) Monozygotic twins

7. Which of the following contains phosphate group in its molecule? (2003)

(A) Nucleotide (C) Cellulose

(B) Protein (D) Simple sugar

8. Which of the following is the right vector to transfer alien genes to bacteria through genetic

engineering? (2003)

(A) Plasmids (C) Mosquitoes

(B) Snails (D) Bacteria

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9. Suppose in a monohybrid cross 80 F2 plants were produced, what is the number of the

plants that are expected to have the dominant and the recessive phenotypes? (2003)

(A) 70 dominant + 10 recessive (C) 50 dominant + 30 recessive

(B) 60 dominant + 20 recessive (D) 40 dominant + 40 recessive

10. Choose the breeding method used by humans to produce new and improved varieties of

plants and animals. (2003)

(A) Crossing – over (C) Natural selection

(B) Artificial selection (D) Independent assortment

11. Which of the following is true about both DNA and RNA? (2003)

(A) Both are single stranded.

(B) Both have a five carbon sugar.

(C) Both are polymers of amino acids.

(D) Both contain the same four nitrogenous bases.

12. Which one is the correct direction of transfer of genetic information in most living things?

(2003)

(A) Protein → DNA → mRNA

(B) DNA → Protein → tRNA

(C) Protein → RNA→ DNA

(D) DNA → RNA → Protein

13. If it is known that the total amount of DNA in a cell contains 300 nucleotides and adenine

contributes to 80 of these, how many nucleotides go to guanine? (2003)

(A) 35 (C) 80

(B) 70 (D) 140

14. What proportion of the number of chromosomes found in a normal cell of an angiosperm

plant is expected in its endosperm tissue? (2003)

(A) Half (C) Two times

(B) Same (D) Three times

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15. Which one of the following types of mutations is responsible for sickle cell anaemia? (2003)

(A) Addition of a base pair

(B) Substitution of a base pair

(C) Deletion of a base pair

(D) A shift in the reading frame of the genetic code.

16. Which of the following phases of mitosis if blocked would produce a cell with twice

as many chromosomes as the mother cell? (2003)

(A) Interphase (C) Anaphase

(B) Prophase (D) Telophase

17. Why is it that the typical diploid chromosome number of many organisms including human

beings is an even number? (2003)

(A) It is only a coincidence.

(B) Chromosomes duplicate before cell division.

(C) Both parents contribute equal number of chromosomes.

(D) Meiosis reduces chromosome number.

18. If, due to incomplete dominance, the F1 plants from a cross of red flowered x white flowered

parents are pink, which of the following ratios are expected in the F2 generation? (2003)

(A) 1 red : 2 pink : 1 white (C) 1 red : 1 pink : 1 white

(B) 2 red : 1 pink : 1 white (D) 3 red : 1 pink : 1 white

19. If it is known that the total number of the purine bases accounts for 50% of a DNA molecule

and if each of the remaining bases are known to have the same proportion, what proportion

is accounted for by Thymine alone in the same molecule? (2003)

(A) 25% (C) 75%

(B) 50% (D) 100%

20. How many different kinds of amino acids are there for protein synthesis? (2004)

(A) Twenty (C) Twenty – six

(B) Twenty – four (D) Thirty – two

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21. As was shown by Gregor Mendel in garden pea, what percentage of the F2 generation of a

monohybrid cross has the recessive phenotype? (2004)

(A) 75% (C) 25%

(B) 50% (D) 12.5%

22. Which group of organisms has a system of protein synthesis in which transcription and

translation take place at separate times? (2004)

(A) In all eukaryotic organisms.

(B) In multicellular animals only.

(C) Only in prokaryotic organisms.

(D) In both prokaryotic and eukaryotic organisms.

23. What do geneticists call the genotype in which the two alleles of a pair are identical? (2004)

(A) Dominant (C) Homozygous

(B) Recessive (D) Heterozygous

24. Which one of the following is NOT a mutation? (2004)

(A) DNA replication to form two daughter DNAs. (C) Deletion of a base pair from DNA.

(B) Gain of an extra chromosome by a cell. (D) Loss of a chromosome by a cell.

25. Which of the following is the best way to check whether an individual having a dominant

phenotype is homozygous or heterozygous for the trait? (2004)

(A) To self the individual

(B) To cross it to a heterozygous individual.

(C) To cross it to homozygous recessive individual.

(D) To cross it to a homozygous dominant individual.

26. Which one of the following is referred to as the First Law of Mendel? (2004)

(A) The occurrence of alleles in pairs.

(B) The dominance of one allele over the other.

(C) The equal contribution of alleles by both parents.

(D) The separation of alleles during gamete formation.

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27. In DNA cloning technology, which of the following molecules serves as a vector of gene of

interest to be transferred to bacterial host? (2004)

(A) Bacterial DNA (C) Nuclear DNA

(B) Plasmid DNA (D) Mitochondrial DNA

28. A genetic cross between two F1 – hybrid pea plants having yellow seeds (dominant) will

yield what percent green – seeded (recessive) plants in the F2 generation? (2004)

(A) 0% (C) 50%

(B) 25% (D) 75%

29. What would most likely result if mitosis fails to be accompanied by cytoplasmic division?

(2004)

(A) Two cells without nuclei.

(B) One cell without a nucleus.

(C) Two cells each with one nucleus.

(D) One cell with two identical nuclei.

30. Among the following couples whose ABO blood genotypes are shown, which one can

produce children of A, B, AB and O blood types? (2004)

(A) OO and AB (C) BO and AO

(B) BO and AA (D) BB and AO

31. Before making crosses, which part of the flower did Mendel remove to avoid self pollination?

(2005)

(A) Stigma (C) Ovary

(B) Ovule (D) Stamens

32. Which of the following is the correct F2 phenotypic ratio of a monohybrid cross? (2005)

(A) 1 : 2 (C) 3: 1

(B) 1 : 1 (D) 2 : 2

33. One of the following is an important cause of gene mutation. (2005)

(A) Old age (C) Smoking

(B) Alcoholic drinks (D) Radiation

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34. How many chromosomes do humans inherit from each of their parents? (2005)

(A) 23 chromosomes (C) 46 chromosomes

(B) 23 pairs of chromosomes (D) 46 pairs of chromosomes

35. Which of the following is NOT true about the gene called SRY? (2005)

(A) It is found on the Y – chromosome.

(B) It determines maleness.

(C) Testes develop in its presence.

(D) Females have two copies of this gene.

36. The sheep ‘dolly’ is an example of which biotechnological manipulation of animals by

human? (2005)

(A) Transgenic animal

(B) Genetically engineered animal

(C) Cloned animal

(D) Hybrid animal

37. In a cross between heterozygotes what proportion is expected to be homozygous recessive?

(2005)

(A) 25% (C) 75%

(B) 50% (D) 100%

38. Gene silencing is the function of one of the following molecules. (2005)

(A) dsRNA (C) siRNA

(B) mRNA (D) tRNA

39. Which process is held responsible for chronic myelogenous leukemia? (2005)

(A) Translocation (C) Transcription

(B) Translation (D) Duplication

40. Two parents of genotype Aa are cross–bred. The alleles show complete dominance. What

proportion of the offspring will phenotypically look like their parents? (2005)

(A) 0 (C) 1/2

(B) 1/4 (D) 3/4

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41. Among the following mating, where the ABO blood genotypes of the partners are shown,

identify the mating in which all the children will have the same blood type. (2005)

(A) AO x BO (C) AB x BO

(B) AA x OO (D) BB x AO

42. Suppose the amino acid coding region in a mRNA is 1200 nucleotides long, how long is the

protein in terms of amino acid number? (2005)

(A) 1200 amino acids (C) 400 amino acids

(B) 600 amino acids (D) 300 amino acids

43. In some human liver cells there are 92 chromosomes per cell. What is the ploidy level of

such cells? (2005)

(A) Haploid (C) Tetraploid

(B) Diploid (D) Hexaploid

44. Which one of the following choices shows the end products of a mitotic cell division? (2005)

(A) Gametes and ordinary cells

(B) Four genetically different cells

(C) Two genetically different cells

(D) Two genetically identical cells

45. What exactly happens during substitution mutation? (2005)

(A) One base is replaced by a different base.

(B) A extra base is added during DNA replication

(C) A base is missed out during DNA replication.

(D) Changes occur in the arrangement or structure of a chromosome.

46. On which of the following organelles of the eukaryotic cell does protein synthesis take

place? (2006)

(A) The nucleus (C) The chloroplast

(B) The ribosome (D) The mitochondrion

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47. Which molecule in the cell is the constituent of the gene? (2006)

(A) Nucleic acid (C) Lipid

(B) Protein (D) Carbohydrate

48. Which of the following groups of animals have males with ZZ and females with ZW sex

chromosome constitution? (2006)

(A) Grasshoppers (C) Mammals

(B) Birds (D) Honey bees

49. In some crosses of maize, the progeny produces better yield than the parents. What is the

phenomenon known as? (2006)

(A) Dominance (C) Hybrid vigour

(B) Heterozygosity (D) Inbreeding depression

50. Which of the following techniques is used to separate DNA fragments according to their size

on a gel? (2006)

(A) Southern blotting (C) Radioactive labeling

(B) Electrophoresis (D) Digestion by restriction enzyme

51. In a cross between round green pea of RRyy genotype and wrinkled yellow pea of rrYY

genotype, what is the expected genotype of the F1? (2006)

(A) RRyy (C) RRYY

(B) rrYY (D) RrYy

52. Which one of the following is the mechanism by which two genes located on the same

chromosome are separated? (2006)

(A) Independent assortment (C) Linkage

(B) Segregation (D) Crossing over

53. Which of the following is NOT a term used to describe organisms that have had foreign

genes added to them? (2006)

(A) Genetically modified organisms (C) Genetically engineered organisms

(B) Transgenic organisms (D) Pathogenic organisms

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54. Which field studies the way in which individual traits of organisms are transmitted from one

generation to the next? (2006)

(A) Genetic (C) Evolution

(B) Ecology (D) Morphology

55. Which molecules carry the instructions for protein synthesis? (2006)

(A) Carbohydrates & lipids (C) DNA & RNA

(B) Amino acids (D) Enzymes

56. In protein synthesis, what is produced during transcription? (2006)

(A) Protein (C) DNA

(B) mRNA (D) Polypeptide

57. Which of the following types of chromosome mutations gives rise to an extra chromosome?

(2006)

(A) Inversion (C) Deletion

(B) Translocation (D) Non – disjunction

58. Which of the following pairs of individuals have identical DNA fingerprints? (2006)

(A) Father and son (C) Brother and sister

(B) Mother and daughter (D) Monozygotic twins

59. Which of the following mating produces children all having the same ABO blood

phenotypes? (2006)

(A) AO x AB (C) AO x BO

(B) BB x OO (D) AA x BO

60. If a DNA contains 10% thymine, what is the percentage of cytosine in the DNA? (2006)

(A) 10% (C) 40%

(B) 30% (D) 90%

61. Which of the following are the two major constituents of eukaryotic chromosomes? (2007)

(A) DNA and RNA (C) DNA and carbohydrate

(B) DNA and protein (D) RNA and lipid

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62. Why is it that mutations are considered as one of the raw materials of evolution? (2007)

(A) They contribute to new variations in organisms.

(B) They are usually related to the environment in which they appear.

(C) They are mostly beneficial to the organism in which they appear.

(D) They usually become the causes for species extinction.

63. Which of the following is true about mutations that occur in normal body cells? (2007)

(A) They never lead to cancerous cells.

(B) They never pass to the next generation.

(C) They never damage the affected cells.

(D) There is no way that they kill the affected cells.

64. What is the process called when two bacteria directly contact cell to cell and exchange their

genetic information? (2007)

(A) Conjugation (C) Co-transformation

(B) Transformation (D) Transduction

65. For what purpose do molecular biologists use the technology known as polymerase chain

reaction or PCR? (2007)

(A) To insert DNA into plasmids (C) To multiply copies of DNA molecule

(B) To insert plasmid into bacteria (D) To produce DNA from RNA

66. What is the base found in RNA in place of thymine of DNA? (2007)

(A) Cytosine (C) Thymine

(B) Guanine (D) Uracil

67. What does a restriction enzyme do? (2007)

(A) Restricts transcription (C) Prevents DNA from replicating

(B) Cuts DNA at specific sites (D) Hydrolyzes the DNA molecule

68. What do you call a group of genetically identical plants produced by vegetative

reproduction? (2007)

(A) Family (C) Hybrid

(B) Clone (D) Genus

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69. A cow was found to yield much higher milk than any of the breeds of the parental cattle.

What could be the most probable reason for this? (2007)

(A) Dominant genes (C) Recessive genes

(B) Hybrid vigour (D) Co-dominance genes

70. When the F1 hybrid of a monohybrid cross is back crossed with the homozygous recessive

parent, what percentage of the offspring would be homozygous recessive? (2007)

(A) 0% (C) 50%

(B) 25% (D) 75%

71. Which two nitrogenous bases belong to the purines? (2007)

(A) Adenine and thymine (C) Guanine and cytosine

(B) Adenine and guanine (D) Thymine and uracil

72. Which of the following is true? (2007)

(A) Recessive alleles are only expressed in the homozygote.

(B) Dominant alleles are expressed only in heterozygote.

(C) Recessive alleles are expressed in the heterozygote.

(D) Genetically modified organisms are never used to manufacture vaccines.

73. Which process produces mRNA during protein synthesis? (2008)

(A) Translation (C) Mutation

(B) Replication (D) Transcription

74. Which of the following is true about gene mutation? (2008)

(A) Altering the DNA sequence of a gene

(B) Change in the position of a block of genes

(C) Addition of genes to a chromosome

(D) Loss of genes from a chromosome

75. What is the circumstance that causes the health condition known as sickle-cell anaemia?

(2008)

(A) DNA denaturation (C) RNA mutation and decay

(B) Haemoglobin mutation (D) Phosphate mutagenesis

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76. Which one of the following terms refers to the failure of sister chromatids to separate from

one another during anaphase? (2008)

(A) Non-disjunction (C) Deletion

(B) Replication (D) Double inversion

77. Which of the following is the correct constitution of the sex chromosome of a normal

woman? (2008)

(A) XY (C) XO

(B) XX (D) XXY

78. In cell division, what is the phase that comes following the metaphase called? (2008)

(A) Extraphase (C) Anaphase

(B) Prophase (D) Telophase

79. Which of the following sequences represents the correct change in number of chromosomes

during fertilization? (2008)

(A) n + n →2n (C) n → n

(B) 2n → n (D) 2n → n + n

80. Which of the following is true about sex determination in birds? (2008)

(A) They have the heterozygotic X & Y chromosomes.

(B) Males have heterozygotic W & Z chromosomes.

(C) Females have the homozygotic WW chromosomes.

(D) They have the heterozygotic W & Z chromosomes.

81. Which of the following crosses will produce progeny with phenotypic ratio of 3:1? (2008)

(A) Crossing the F1 to the dominant parent

(B) Crossing two homozygote individuals

(C) Crossing the F1 to the recessive parent

(D) Crossing two heterozygote individuals

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82. What percentage of the F1 progeny of a monohybrid cross is expected to have the recessive

phenotype? (2008)

(A) 100% (C) 25%

(B) 75% (D) 50%

83. If it is known that the total amount of DNA in a cell is 300 units and that adenine alone

contributes 70 of these units, how many units go to cytosine? (2008)

(A) 40 units (C) 80 units

(B) 70 units (D) 35 units

84. If a codon on a messenger RNA is UUU, what is the complementary anticodon on the

transfer RNA? (2008)

(A) UUU (C) CCC

(B) GGG (D) AAA

85. If a clone is produced by transferring a nucleus of animal A to an enucleated egg of animal B

and the egg is then implanted in the uterus of animal C, which animal would the clone

resemble most? (2008)

(A) Animal C (C) Animal A

(B) Animal B (D) Other animals

86. Suppose two heterozygous round yellow (RrYy x RrYy) pea plants were crossed and 128

seeds were produced, how many of the seeds are expected to be heterozygous round

yellow? (2008)

(A) 64 seeds (C) 96 seeds

(B) 32 seeds (D) 128 seeds

87. Which aspect of biotechnology is considered strictly genetic engineering? (2008)

(A) Providing gene therapy

(B) Production of new types of plants

(C) Monoclonal antibodies

(D) Mapping of the human genome

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88. Which of the following parts of the flower did Mendel remove from young flowers to

prevent self-pollination? (2009)

(A) Stamens (C) Petals

(B) Sepals (D) Ovaries

89. Which of the following is the sex chromosome constitution of human males? (2009)

(A) XX (C) ZZ

(B) XY (D) ZW

90. Which of the following bases is NOT found in RNA? (2009)

(A) Adenine (C) Cytosine

(B) Guanine (D) Thymine

91. What kind of cross is performed to determine whether the parent was homozygous or

heterozygous? (2009)

(A) Monohybrid cross (C) Back cross

(B) Dihybrid cross (D) Double cross

92. If a heterozygous tall pea plant (Tt) is crossed with a short pea plant (tt), what percentage of

the progeny is expected to be short? (2009)

(A) 100% (C) 50%

(B) 75% (D) 25%

93. When Mendel crossed a tall pea plant with a short plant, the F1 progeny were all tall. What

F1 did he obtain when he made the reciprocal cross? (2009)

(A) Short plants (C) Extra-tall plants

(B) Tall plants (D) Plants of average height

94. Among the following ABO blood group genotypes, which one produces two types of

antigens? (2009)

(A) IAIO (C) IAIB

(B) IBIO (D) IBIB

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95. Which of the following methods do animal breeders use to produce domestic animals with

hybrid vigor? (2009)

(A) Feeding with nutritive feed

(B) Giving proper veterinary care

(C) Mating together related animals

(D) Crossbreeding their animals

96. At which of the following generations of crosses between dominant and recessive

homozygote parents are all the progeny heterozygous? (2009)

(A) P1 generation (C) F2 generation

(B) F1 generation (D) F3 generation

97. Which of the following nitrogenous bases of nucleic acids is a purine base? (2009)

(A) Adenine (C) Thymine

(B) Cytosine (D) Uracil

98. Which of the plants with the following genotypes is heterozygous? (2009)

(A) BBYY (C) bbyy

(B) BbYy (D) YYBB

99. If in a DNA molecule consisting of 1000 base pairs, there are 300 adenine bases, how many

guanine bases will be present? (2009)

(A) 200 (C) 600

(B) 400 (D) 700

100. Mutation may be described as: (2009)

(A) phenotypic change (C) continuous variation

(B) change in gene structure (D) change due to hybridization

101. Which for of mutation is responsible for the disease known as leukemia? (2009)

(A) Duplication (C) Inversion

(B) Insertion (D) Deletion

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102. In which one of the following do we use genetically modified bacteria for purposes other

than human health? (2009)

(A) Production of insulin (C) Production of herbicides

(B) Production of antibiotics (D) Production of vaccines

103. The ultimate source of genetic variation is (2010)

(A) genetic drift (C) mutation

(B) migration (D) selection

104. During meiosis, which process makes the four chromatids of a homologous pair of

chromosomes genetically different from one another? (2010)

(A) Independent assortment (C) Segregation

(B) Linkage (D) Crossing over

105. One of the following is NOT true about protein synthesis in eukaryotes. (2010)

(A) Translation takes place in the cytoplasm

(B) Both transcription and translation take place in the cytoplasm

(C) Transcription takes place in the nucleus

(D) mRNA is modified after transcription

106. If two heterozygous tall pea plants are crossed, how many of the offspring would be

phenotypically tall plants? (2010)

(A) 0% (C) 50%

(B) 75% (D) 25%

107. The type of enzyme used in recombinant DNA technology to split a specific sugar

phosphate bond in each of a DNA double helix is called: (2010)

(A) lipase (C) ligase

(B) esterase (D) restriction enzyme

108. One goat is heterozygous, long hair (Rr), and its mate carries homozygous short hair (rr).

What is the probability of the offspring having short hair? (2010)

(A) 25% (C) 50%

(B) 100% (D) 75%

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109. Which of the following nucleotide sequences contains four pyrimidine bases? (2010)

(A) UAGCGGUAA (C) GATCAATGC

(B) GCUAGACAA (D) Both B and C

110. Which one of the following is commonly called the code of life? (2011)

(A) DNA (C) Nucleus

(B) Organelle (D) Cell

111. What is the function of DNA polymerase? (2011)

(A) It hydrolyzes the DNA molecule.

(B) It converts the DNA molecule to RNA.

(C) It forms DNA by joining nucleotides.

(D) It joins two RNA molecules to form DNA.

112. Which of the following chromosomal errors creates a cell with an extra chromosome?

(2011)

(A) Deletion (C) Non-disjunction

(B) Inversion (D) Duplication

113. Which type of chromosome mutation causes the human genetic defect known as trisomy

16? (2011)

(A) Deletion (C) Duplication

(B) Translocation (D) Chromosome inversion

114. If two parents with genotypes ‘Aa’ are cross-bred and that there is no codominance in the

inheritance pattern, what proportion of the offspring would have genotypes exactly like that

of their parents?

(A) 100% (C) 50%

(B) 75% (D) 25%

115. Which of the following is an example of a cell formed by reduction division? (2011)

(A) Nerve cells (C) Bone cells

(B) Sperm cells (D) kidney cells

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116. Transfer of a gene or genes through a virus is called: (2011)

(A) transformation (C) genetic engineering

(B) conjugation (D) transduction

117. If colour blindness is sex linked and a colour-blind man marries the daughter of a colour-

blind person, which of the following is their progeny? (2011)

(A) Half of her sons are colour-blind

(B) All her sons are colour-blind

(C) All her daughters are colour-blind

(D) None of her daughters are colour-blind

118. When an organism containing a gene which does NOT belong to it and is derived from

somewhere else, the organism is said to be: (2011)

(A) transgenic (C) mutant

(B) hybrid (D) clonal

119. How many nucleotides are needed to form codons for a protein that is 100 amino acids

long? (2011)

(A) 100 nucleotides (C) 200 nucleotides

(B) 300 nucleotides (D) 640 nucleotides

120. If allowed to self-pollinate, which of the following pea genotype would produce progeny

with 9:3:3:1 phenotypic ratio? (2011)

(A) RRYy (C) RrYy

(B) RrYY (D) RRYY

121. Which of the following statements about transgenic organisms is correct? (2011)

(A) Any organism in which a foreign gene is added to its genome.

(B) A plant that has been cross-pollinated with another plant.

(C) An animal that has been reared in isolation in the laboratory.

(D) A bacterium that contains genes from another organism.

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