NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A

PHOTOCOPY FOR THEIR OWN USE

LECTURE NOTES
FOR
B. Sc BIOLOGY
B. Ed BIOLOGY
STUDENTS

BIO 3311: GENETICS II

By
Sani Halliru Bawale
Department of Biological Sciences
College of Natural and Applied Sciences

2024/2025 SESSION

1
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

BIO 3311: Genetics II (3 Units)

Outlines

 Abnormal human karyotypes;

 Aberrations of chromosomes and Human Genetic anomalies
 Effect of radiation and chemical agents (Assignment Edu Biology Students)
 Pedigree analysis
 Introduction to population genetics.
 Variation in Plants (Assignment Bsc Biology Students)

ABNORMAL HUMAN KARYOTYPES

Human karyotype refers to the number and appearance of chromosomes in the nucleus of a
human cell. A normal human karyotype consists of 46 chromosomes, organized into 23 pairs,
with two sex chromosomes determining the individual's sex. Abnormalities in the number or
structure of chromosomes can lead to various genetic disorders. Here are some examples of
abnormal human karyotypes:
1. Trisomy 21 (Down syndrome): Individuals with Down syndrome have an extra copy of
chromosome 21, resulting in a total of 47 chromosomes. This condition is characterized
by intellectual disabilities, distinctive facial features, and an increased risk of certain
health problems.
2. Trisomy 18 (Edwards’s syndrome): People with Edwards’s syndrome have three copies
of chromosome 18, leading to severe developmental abnormalities. Many affected
individuals do not survive beyond infancy, and those who do often have intellectual
disabilities and multiple physical abnormalities.
3. Trisomy 13 (Patau syndrome): Patau syndrome is caused by an extra copy of
chromosome 13, resulting in a total of 47 chromosomes. It leads to severe intellectual
disabilities and numerous physical abnormalities. Like Edwards syndrome, many infants
with Patau syndrome do not survive long.
4. Turner syndrome (Monosomy X): In Turner syndrome, individuals have only one X
chromosome (45 total chromosomes) instead of the usual two sex chromosomes (XX).
This condition affects females and is associated with short stature, delayed puberty, and
infertility.
5. Klinefelter syndrome: This condition occurs in males who have an extra X
chromosome, resulting in a total of 47 chromosomes (XXY). Individuals with Klinefelter
syndrome may have reduced fertility, language delays, and social challenges.
6. Triple X syndrome (Trisomy X): Females with triple X syndrome have an extra X
chromosome, resulting in a total of 47 chromosomes (XXX). Most individuals with this
condition do not show significant physical abnormalities, but they may have language
and learning difficulties.
7. 47, XYY syndrome: Males with 47, XYY syndrome have an extra Y chromosome,
resulting in a total of 47 chromosomes (XYY). Most individuals with this condition lead
normal lives, but there may be a slightly increased risk of developmental and behavioral
challenges.

2
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

8. Cri-du-chat syndrome: This syndrome is caused by a deletion on the short arm of

chromosome 5. Individuals with cri-du-chat syndrome have a distinctive cry, intellectual
disabilities, and developmental delays.

CHROMOSOMAL ABERRATION AND HUMAN CHROMOSOMAL

ABNORMALITIES
Chromosome: are microscopic threadlike part of the cell (Plant and Animal) that carries
hereditary information in the form of genes
Genes: is the basic physical and functional unit of hereditary and a made up of DNA

Chromosomal aberrations: refer to structural or numerical abnormalities in the chromosomes,

the thread-like structures in the nucleus of a cell that carry genetic information. These aberrations
can lead to various genetic disorders and impact an individual's development, health, and
reproduction. There are two main types of chromosomal aberrations: numerical aberrations and
structural aberrations.
Numerical Aberrations:
Numerical aberrations refer to deviations from the normal number of chromosomes in a cell. The
usual human karyotype consists of 46 chromosomes organized into 23 pairs (22 pairs of
autosomes and 1 pair of sex chromosomes). Numerical aberrations can involve either a gain
(trisomy) or loss (monosomy) of one or more chromosomes. Here are the main types of
numerical aberrations:
a. Trisomy: is the presence of an additional chromosome, resulting in a total of three copies
instead of the normal two.
Example: Down syndrome (Trisomy 21), where there is an extra copy of chromosome 21.
Characteristics: Intellectual disabilities, distinct facial features, and an increased risk of certain
health issues.
b. Monosomy: The absence of one member of a chromosome pair, resulting in a total of
one copy instead of the normal two.
Example: Turner syndrome (Monosomy X), where females have only one X chromosome
instead of the usual two.
Characteristics: Short stature, webbed neck, infertility, and certain health complications.
c. Polysomy: The presence of more than the usual number of chromosomes in a set.
Examples: Klinefelter syndrome (47, XXY): Individuals have an extra X chromosome (XXY).
Triple X syndrome (47, XXX): Females have an extra X chromosome (XXX).
d. Triploidy: The presence of three complete sets of chromosomes.
Characteristics: Usually incompatible with life, leading to spontaneous abortion (miscarriage).
e. Tetrasomy: The presence of four copies of a particular chromosome.
Example: Tetrasomy X, a rare condition where females have four X chromosomes.
Causes of Numerical Aberrations:
i. Nondisjunction: The failure of chromosomes to separate correctly during cell
division, resulting in an unequal distribution of chromosomes to daughter cells.
ii. Aneuploidy: An abnormal number of chromosomes due to the loss or gain of
individual chromosomes.
iii. Maternal Age: Advanced maternal age is associated with an increased risk of
numerical aberrations, particularly trisomies.
3
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

Diagnosis
i. Karyotyping: Visualization of chromosomes to identify numerical abnormalities.
ii. Prenatal Testing: Techniques such as amniocentesis or chorionic villus sampling can
detect numerical aberrations in developing fetuses.
Implications
i. Genetic Disorders: Numerical aberrations often lead to genetic disorders with
varying degrees of severity.
ii. Variable Expressivity: The phenotypic expression of numerical aberrations can vary
among individuals.
Genetic Counseling:
i. Informing Individuals and Families: Providing information about the nature, risks,
and potential outcomes associated with numerical aberrations.
ii. Reproductive Decision-Making: Assisting individuals and couples in making
informed decisions about family planning.

Structural Aberrations
Structural aberrations refer to alterations in the structure of chromosomes, involving changes in
the arrangement or composition of genetic material. Unlike numerical aberrations, where the
number of chromosomes is affected, structural aberrations impact the physical structure of one or
more chromosomes. Here are the main types of structural aberrations:
1. Deletions: Loss of a portion of a chromosome or breakage of a chromosome, followed by
the loss of the broken fragment during cell division.
Example: Cri du chat syndrome, caused by a deletion on the short arm of chromosome 5 (46, XX
or XY, 5p-).
Characteristics: Cat-like cry, intellectual disabilities, and speech delays.
2. Duplications: A portion of the chromosome is duplicated, resulting in extra genetic
material. Known human disorders include Charcot-Marie-Tooth disease type 1A, which
may be caused by duplication of the gene encoding peripheral myelin protein 22
(PMP22) on chromosome 17. Duplications can occur from two DNA breaks at different
places in sister chromatids (in a replicated chromosome). The ends are joined together
incorrectly to give a chromosome with a duplication (two “B” regions as shown above).
Note: the reciprocal product has a deletion.
3. Inversions: A portion of the chromosome has broken off, turned upside down, and
reattached, therefore the genetic material is inverted. Inversions also occur when both
breaks are on one chromosome. If the ends are joined in this way, part of the
chromosome is inverted. This example shows a paracentric inversion, named because
the inverted section does not include the centromere (para = beside). If the breaks occur
on different chromosome arms the inverted section includes the centromere and the result
is a pericentric inversion (peri = around).
4. Translocations result from two breaks on different chromosomes (not homologs) and
incorrect rejoining. This example shows a
 Reciprocal translocation - two chromosomes have 'swapped' arms, the E gene is
now part of the white chromosome and the C gene is now part of the shaded
chromosome (ie Segments from two different chromosomes have been
exchanged).

4
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

 Robertsonian translocations are those rare situations in which all of the genes
end up together on one chromosome and the other chromosome is so small that it
is typically lost (ie An entire chromosome has attached to another at the
centromere - in humans these only occur with chromosomes 13, 14, 15, 21, and
22).
5. Insertions: A portion of one chromosome has been deleted from its normal place and
inserted into another chromosome.
6. Rings: A portion of a chromosome has broken off and formed a circle or ring. This can
happen with or without loss of genetic material.
7. Isochromosome: Formed by the mirror image copy of a chromosome segment including
the centromere.

Causes of Structural Aberrations:

Spontaneous Errors: Mistakes during DNA replication, repair, or recombination.
Environmental Factors: Exposure to radiation, certain chemicals, or other mutagenic agents.
Diagnosis
i. Karyotyping: Visual examination of chromosomes to identify structural
abnormalities.
ii. Molecular Techniques:
a. Fluorescence in situ hybridization (FISH): Detects specific DNA sequences on
chromosomes.
b. Array Comparative Genomic Hybridization (aCGH): Identifies copy number variations.
Implications:
1. Genetic Disorders: Structural aberrations can lead to genetic disorders with varying
degrees of severity.
2. Gene Dosage Effects: Duplications and deletions can cause imbalances in gene dosage,
affecting normal development and function.

Chromosome instability syndromes: are a group of disorders characterized by chromosomal

instability and breakage. They often lead to an increased tendency to develop certain types of
malignancies.

Effect of Radiation and Chemical Agent

Both radiation and chemical agents can have profound effects on genetics, causing changes in
the very blueprint of life: our DNA. These alterations can have lasting consequences for
individuals and even entire populations.

1. Radiation:
i. DNA damage: Ionizing radiation, like X-rays and gamma rays, directly damages
DNA by breaking or altering its structure. This can lead to mutations, which are
permanent changes in the genetic code.

5
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

DNA damage caused by radiation

ii. Chromosomal aberrations: Radiation can also cause breaks and rearrangements in
chromosomes, the thread-like structures that package DNA. These aberrations can
disrupt vital genes and lead to developmental problems and cancers.

Chromosomal aberrations caused by radiation

iii. Increased mutation rate: Even low doses of radiation can slightly increase the
overall mutation rate in cells. Over time, these accumulated mutations can contribute
to various health issues, including cancer and genetic disorders.
2. Chemical agents
i. Mutagenic chemicals: Certain chemicals, like alkylating agents and base analogs,
directly interact with DNA and cause mutations. These mutations can be point
mutations, affecting a single nucleotide, or larger deletions or insertions.

6
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

Mutagenic chemicals

ii. Epigenetic changes: Some chemicals don't directly alter the DNA sequence but can
modify its activity through methylation or histone modifications. These epigenetic
changes can affect gene expression and lead to heritable traits without changing the
underlying DNA code.
iii. DNA adducts: Certain chemicals form adducts with DNA, bulky structures that
interfere with DNA replication and repair. This can lead to mutations and
chromosomal breaks.

Combined effects

The effects of radiation and chemical agents on genetics can be additive or synergistic. For
example, exposure to both radiation and benzene can significantly increase the risk of developing
leukemia compared to exposure to either agent alone.

Genetic consequences: The genetic changes caused by radiation and chemical agents can have
various consequences:

a. Somatic mutations: These mutations occur in non-reproductive cells and affect only the
exposed individual. They can contribute to various health problems, including cancer, but
are not passed on to offspring.
b. Germ line mutations: These mutations occur in reproductive cells (sperm and eggs) and
can be passed on to future generations. They can cause genetic disorders in children and
contribute to long-term evolutionary changes in populations.

Understanding the impact of radiation and chemical agents on genetics is crucial for:

i. Assessing health risks from exposure to these agents.

ii. Developing strategies for preventing or mitigating genetic damage.
iii. Counseling individuals who may be at risk for genetic disorders.

7
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

By studying the effects of these agents on DNA, we gain valuable insights into the delicate
balance of life and the intricate workings of our genetic material. It's important to remember that
the specific effects of radiation and chemical agents on genetics depend on various factors,
including the type and amount of exposure, the individual's genetic makeup, and other
environmental factors. If you have concerns about potential genetic risks, consulting a healthcare
professional or genetic counselor is recommended.

PEDIGREE ANALYSIS
A pedigree is a diagram showing the ancestral relationships and transmission of genetic traits
over several generations in a family. Square symbols are almost always used to represent males,
whilst circles are used for females. Four different traits can be identified by pedigree chart
analysis: autosomal dominant, autosomal recessive, x-linked, or y-linked. Partial penetrance can
be shown and calculated from pedigrees. Penetrance is the percentage expressed frequency with
which individuals of a given genotype manifest at least some degree of a specific mutant
phenotype associated with a trait. Inbreeding, or mating between closely related organisms, can
clearly be seen on pedigree charts. Pedigree charts of royal families often have a high degree of
inbreeding, because it was customary and preferable for royalty to marry another member of
royalty. Genetic counselors commonly use pedigrees to help couples determine if the parents will
be able to produce healthy children.

An example of a family pedigree displaying an autosomal recessive trait

8
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

Autosomal dominant inheritance

Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)—they
are called "dominant" because a single copy—inherited from either parent—is enough to cause
this trait to appear. This often means that one of the parents must also have the same trait, unless
it has arisen due to an unlikely new mutation. Examples of autosomal dominant traits and
disorders are Huntington's disease.

Autosomal dominant pattern, a 50/50 chance

Autosomal recessive inheritance

Autosomal recessive traits is one pattern of inheritance for a trait, disease, or disorder to be
passed on through families. For a recessive trait or disease to be displayed two copies of the trait
or disorder needs to be presented. The trait or gene will be located on a non-sex chromosome.
Because it takes two copies of a trait to display a trait, many people can unknowingly be carriers
of a disease. From an evolutionary perspective, a recessive disease or trait can remain hidden for
several generations before displaying the phenotype. Examples of autosomal recessive disorders
are albinism, cystic fibrosis.

9
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

Autosomal recessive inheritance, a 25% chance

X-linked and Y-linked inheritance
X-linked genes are found on the sex X chromosome. X-linked genes just like autosomal genes
have both dominant and recessive types. Recessive X-linked disorders are rarely seen in females
and usually only affect males. This is because males inherit their X chromosome and all X-linked
genes will be inherited from the maternal side. Fathers only pass on their Y chromosome to their
sons, so no X-linked traits will be inherited from father to son. Men cannot be carriers for
recessive X linked traits, as they only have one X chromosome, so any X linked trait inherited
from the mother will show up.
Females express X-linked disorders when they are homozygous for the disorder and become
carriers when they are heterozygous. X-linked dominant inheritance will show the same
phenotype as a heterozygote and homozygote. Just like X-linked inheritance, there will be a lack
of male-to-male inheritance, which makes it distinguishable from autosomal traits. One example
of an X-linked trait is Coffin–Lowry syndrome, which is caused by a mutation in ribosomal
protein gene. This mutation results in skeletal, craniofacial abnormalities, mental retardation, and
short stature.
X chromosomes in females undergo a process known as X inactivation. X inactivation is when
one of the two X chromosomes in females is almost completely inactivated. It is important that
this process occurs otherwise a woman would produce twice the amount of normal X
chromosome proteins. The mechanism for X inactivation will occur during the embryonic stage.
For people with disorders like trisomy X, where the genotype has three X chromosomes, X-
inactivation will inactivate all X chromosomes until there is only one X chromosome active.
Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X
inactivation to have only one completely active X chromosome.
Y-linked inheritance occurs when a gene, trait, or disorder is transferred through the Y
chromosome. Since Y chromosomes can only be found in males, Y linked traits are only passed
on from father to son. The testis determining factor, which is located on the Y chromosome,
determines the maleness of individuals. Besides the maleness inherited in the Y-chromosome
there are no other found Y-linked characteristics.

10
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

Uses of pedigree
1. Detection of genetic diseases
2. Determining the chances of a parent to produce an offspring with a specific trait used in
genetic counselling:
3. Traits identification:
a. Dominant – where a single copy inherited from either parent is enough for trait
appearance. AA= Aa phenotypes
b. Recessive – for a recessive trait to be displayed, two copies of the genes must be
present (aa)
c. X-linked – genes are found on the sex X chromosomes mainly of females (XX)
d. Y-linked – genes are transferred through the Y-chromosomes –found only in Males
(XY)
e. Calculation of penetrance – the % age expressed frequency of individuals of a
genotype.
f. Determination of inbreeding – mating between closely related organisms e.g.
Pedigree of royal families have a high degree of inbreeding.
INTRODUCTION TO POPULATION GENETICS
Population genetics is the branch of evolutionary biology responsible for investigating processes
that cause changes in allele and genotype frequencies in populations based upon Mendelian
inheritance. Four different forces can influence the frequencies: natural selection, mutation, gene
flow (migration), and genetic drift. A population can be defined as a group of interbreeding
individuals and their offspring. For human genetics the populations will consist only of the
human species. The Hardy-Weinberg principle is a widely used principle to determine allelic and
genotype frequencies.
Mendelian inheritance is a type of biological inheritance that follows the laws originally
proposed by Gregor Mendel in 1865 and 1866 and re-discovered in 1900. These laws were
initially controversial. When Mendel's theories were integrated with the Boveri–Sutton
chromosome theory of inheritance by Thomas Hunt Morgan in 1915, they became the core
of classical genetics. Ronald Fisher combined these ideas with the theory of natural selection in
his 1930 book The Genetical Theory of Natural Selection, putting evolution onto
a mathematical footing and forming the basis for population genetics within the modern
evolutionary synthesis
Natural selection
Natural selection acts on the phenotype, the characteristics of the organism which actually
interact with the environment, but the genetic (heritable) basis of any phenotype that gives that
phenotype a reproductive advantage may become more common in a population. Over time, this
process can result in populations that specialize for particular ecological niches (microevolution)
and may eventually result in speciation (the emergence of new species, macroevolution). In other
words, natural selection is a key process in the evolution of a population
Mutation is the permanent alteration of the nucleotide sequence of the genome of
an organism, virus, or extra chromosomal DNA or other genetic elements. Mutations result from
errors during DNA replication or other types of damage to DNA (such as may be caused by
11
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

exposure to radiation or carcinogens). Mutations play a part in both normal and abnormal
biological processes including: evolution, cancer, and the development of the immune system,
including junctional diversity.

Gene flow also known as gene migration is the transfer of genetic variation from
one population to another. If the rate of gene flow is high enough, then two populations are
considered to have equivalent genetic diversity and therefore effectively a single population. It
has been shown that it takes only "One migrant per generation" to prevent population diverging
due to drift. Gene flow is an important mechanism for transferring genetic diversity among
populations. Migrants into or out of a population may result in a change in allele frequencies (the
proportion of members carrying a particular variant of a gene), changing the distribution of
genetic diversity within the populations.

Gene flow is the transfer of alleles from one population to another population through
immigration of individuals.
There are a number of factors that affect the rate of gene flow between different populations.
Gene flow is expected to be lower in species that have low dispersal or mobility, occur in
fragmented habitats, there is long distant between populations, and smaller populations’
sizes. Mobility plays an important role in the migration rate as highly mobile individuals tend to
have greater migratory potential. Animals tend to be more mobile than plants, although pollen
and seeds may be carried great distances by animals or wind. As dispersal distance decreases,
gene flow is impeded and inbreeding, measured by the inbreeding coefficient (F), increases. For
example, many island populations have low rates of gene flow due to geographically isolated and
small population size. The Black Footed Rock Wallaby has several inbred populations that live
on various islands off the coast of Australia. The population is so strongly isolated that gene flow
is not a possibility leading to high occurrences of inbreeding.

Genetic drift also known as allelic drift or the Sewall Wright effect after biologist Sewall
Wright is the change in the frequency of an existing gene variant (allele) in a population due to
random sampling of organisms. The alleles in the offspring are a sample of those in the parents,
and chance has a role in determining whether a given individual survives and reproduces. A
population's allele frequency is the fraction of the copies of one gene that share a particular
form. Genetic drift may cause gene variants to disappear completely and thereby reduce genetic
variation.
Hardy–Weinberg principle, also known as the Hardy–Weinberg equilibrium, model,
theorem, or law, states that allele and genotype frequencies in a population will remain constant
12
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

from generation to generation in the absence of other evolutionary influences. These influences
include mate choice, mutation, selection, genetic drift, gene flow and meiotic drive.
POPULATION GENETICS
Population genetics is concerned with inheritance of an interbreeding group of
individuals of the same species existing as a population.
It is the study of the genetic constitution of the group and changes therein from
generation to generation.
The genotypes of all interbreeding individuals in a population collectively from a gene
pool.
HARDY-WEINBERG EQUATION
The Hardy-Weinberg Equation is a mathematical equation that can be used to calculate
the genetic variation of population.
In 1908, G.H Hardy and Wilhelm Weinberg independently developed a basic principal of
population genetics which is now named the Hardy-Weinberg Equation.
The equation is an expression of the principal known as Hardy-Weinberg Equilibrium
which states that the amount of genetic variation in a population will remain constant
from one generation to the next in the absence of disturbing factors.
In a simple genetic locus at which there are two allele A and a. The Hardy-Weinberg
Equation is expressed as:
P2+2pq+q2 = 1 and also p+q = 1 or (p+q)2 = 12
Where:
P is the frequency of the “A” allele
q is the frequency of the “a” allele in the population in the equation
p2 represents the frequency of the homozygous genotypes AA
q2 represents the frequency of the homozygous genotypes aa
2pq represents the frequency of the heterozygous genotypes Aa
In addition, the sum of the allele frequencies for all the alleles at the locus must be 1, so p+p = 1.
If the p and q allele frequencies are known, then the frequencies of the three genotypes may be
calculated using the Hardy-Weinberg Equation.
In population genetics studies, the Hardy-Weinberg Equation can be used to measure whether the
observed genotype frequencies in a population differ from the frequencies predicted by the
equation.
In Hardy-Weinberg equilibrium the conditions are:
 Large population size
 No mutation
 No immigration
 Random Mating
 Random Reproduction success (no selection)
METHOD OF MEASURING GENOTYPES FREQUENCIES
One way of measuring genotype frequency is from phenotype frequency.
For instance consider the case of 3 blood groups A, AB and B determined the allele IA
and IB at a single locus. In a random sample of 1000 humans, the A group occurred in
210, AB in 450 and B in 340 individuals. The frequencies of the group phenotypes and
13
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

their respective genotypes are obtained by dividing the number of individuals for each
group by the total. The frequency of blood group B for example would be 340/1000 =
0.34.
Another method of estimating the genotype frequencies is first to calculate the gene
frequency of genes A and B in the population. For instance 210 AA, 450 AB and 340 BB
individuals. The gene frequency of A in the population is represented by the probability
to find A allele at the AB locus and is exactly equivalent to the proportion of A alleles at
this locus in the sample or in the population. As the individual carries two alleles at the
AB locus, the total number of the allele in the sample is 1000 x 2 = 2000. Out of these
210 +210+450 = 870 are A. Therefore, the frequency of the A allele is 870/2000 = 0.435.
Samples questions
1. Define population genetics and mention the goals of population genetics
2. Differentiate between allelic and genotypic frequencies
3. Explain the concept of the Hardy Weinberg principle
4. Mention and discuss the principles affecting the Hardy – Weinberg principle

VARIATION IN PLANTS
Variations in plants can be broadly categorized into two types: genetic and environmental.

1. Genetic variations: are caused by differences in the DNA of individual plants. These
differences can arise from mutations, which are changes in the DNA sequence, or from
the shuffling of genes during sexual reproduction. Genetic variations can be inherited
from parents to offspring, and they can have a significant impact on a plant's phenotype,
which is its observable characteristics.

Plant DNA

Some examples of genetic variations in plants include:

i. Differences in flower color: For example, some roses are red, while others are yellow or
white. This variation is caused by differences in the genes that control the production of
pigments.

14
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

ii. Differences in fruit size: For example, some apples are small and tart, while others are
large and sweet. This variation is caused by differences in the genes that control fruit
development.
iii. Differences in disease resistance: For example, some varieties of wheat are resistant to
certain fungal diseases, while others are not. This variation is caused by differences in the
genes that control the plant's immune system.
2. Environmental variations: are caused by differences in the environment in which a
plant grows. These differences can include factors such as sunlight, temperature, water
availability, and soil nutrients. Environmental variations can have a significant impact on
a plant's phenotype, even if its genotype (genetic makeup) is the same.

Different plant growing conditions

Some examples of environmental variations in plants include:

i. Differences in plant size: For example, a plant that grows in full sun will be larger than a
plant that grows in the shade. This is because the plant in the sun has more access to
light, which it needs for photosynthesis.
ii. Differences in leaf color: For example, a plant that is grown in drought conditions will
have smaller, paler leaves than a plant that is grown in well-watered conditions. This is
because the plant in drought conditions is conserving water by reducing the surface area
of its leaves.
iii. Differences in flowering time: For example, a plant that is grown in shorter days will
flower earlier than a plant that is grown in longer days. This is because the plant uses day
length as a cue to determine when to flower.

The interplay of genetic and environmental variations is what gives rise to the amazing diversity
of plants that we see in the world around us. This diversity is essential for the health of
ecosystems, and it is also a valuable resource for human beings. For example, plant breeders can
15
 NOT FOR SALE, HOWEVER STUDENTS ARE ALLOWED TO MAKE A
PHOTOCOPY FOR THEIR OWN USE

use variations in plants to develop new varieties with improved yields, disease resistance, and
other desirable traits.

16