BBCCT 121 SOLVED

ASSIGNMENT 2022-23
Assignment CONCEPTS IN GENETICS Course Code: BBCCT-121 Maximum marks:100
Assignment code: BBCCT-121/TMA/2023 Note: Attempt all questions. The marks for each
question are indicated against it. For any question worth 2 marks, the word limit is 50
words, for 5 marks question it is 100 words; and for 10 marks it is 250-300 words. PART-
(A) Maximum marks: 50
1 Highlight the unique features of any two model organisms and their suitability for
specific studies 10.
Ans. Drosophila melanogaster (fruit fly) is a widely used model organism in genetic and
developmental biology studies. Some of its unique features include a short generation time
(about 10 days), easy maintenance, and a relatively simple genome (about 180 million base
pairs). These features make it an excellent model for studying genetic and developmental
mechanisms, as well as for identifying genes that are involved in disease.
One of the most valuable features of Drosophila is its well-established genetic system, which
includes a large collection of mutant strains that can be used for genetic screens and gene
function studies. The ability to create and study different genetic mutants makes Drosophila
a powerful tool for functional genomics studies. Additionally, the GAL4/UAS system, which
allows for targeted expression of genes, makes it an ideal model for studying the regulation
of gene expression.
Drosophila is also used in evolutionary biology studies, as it is a model for speciation,
adaptation, and genetic drift. Drosophila species have evolved multiple times independently
in different geographic regions, and this diversity can be used to study the genetic basis of
adaptation to different environments.
Another area of research where Drosophila is particularly useful is in the study of behavior.
Drosophila has a simple nervous system that is easy to study and manipulate. Research on
Drosophila has led to the discovery of many genes and pathways that are involved in the
regulation of behavior, including those involved in sleep, memory, and courtship.
Caenorhabditis elegans (roundworm) is another commonly used model organism in genetics
and developmental biology. Some of its unique features include a transparent body, which
allows for easy visualization of internal organs and tissues, a relatively simple nervous
system, and a fully mapped and sequenced genome (about 100 million base pairs). These
features make it an excellent model for studying neural development and function, as well
as for identifying genes that are involved in aging and disease.
One of the most valuable features of C. elegans is its highly conserved gene regulatory
network, which is similar to those found in humans. This makes it an excellent model for
studying the genetics and biology of aging, as well as for identifying genes that are involved
in age-related diseases. C. elegans is also a powerful model for studying neurodegenerative
diseases, such as Alzheimer's and Parkinson's, as it has a simple and well-defined nervous
system that is easy to study and manipulate.
Another area of research where C. elegans is particularly useful is in the study of
development. C. elegans has a well-defined developmental program, with a fixed number of
cells, which makes it an ideal model for studying cell fate determination, cell differentiation
and cell migration. Additionally, C. elegans has been used to study the molecular
mechanisms of cell signaling, as well as the genetic control of cell division.
C. elegans is also a model organism in the field of genetics, particularly in the study of
genetic variation, evolution and adaptation. The small size and short life cycle of C. elegans
make it an ideal model for studying the genetic basis of adaptation to different
environments, as well as the genetic variation within populations.

2 Draw the Punnet square to predict the outcome of:

(i) AaBb X AaBb
Ans. The Punnett square for this cross would have four boxes, with the alleles from one
parent listed along the top and the alleles from the other parent listed along the side. The
possible combinations of alleles in the offspring would be represented in the boxes within
the square.

A a

A Aa Aa

B Bb Bb

All the offspring will be AaBb (heterozygous for both A and B)

(ii) AaBbCc X AaBbCc 10

Ans. The Punnett square for this cross would have eight boxes, with the alleles from one
parent listed along the top and the alleles from the other parent listed along the side. The
possible combinations of alleles in the offspring would be represented in the boxes within
the square.

A a

A Aa Aa

a Aa Aa

B Bb Bb

b Bb Bb

C Cc Cc
 A a

c Cc Cc

All the offspring will be AaBbCc (heterozygous for A, B, and C)

3 Differentiate between recessive and dominant epistasis. 10

Ans. Epistasis refers to the interaction between genes at different loci that can affect the
phenotype of an organism. In other words, it is a phenomenon where the expression of one
gene alters the expression of another gene. There are two main types of epistasis: recessive
epistasis and dominant epistasis.
Recessive epistasis occurs when one gene mask the effect of another gene. This can happen
when a dominant allele at one gene locus suppresses the expression of a recessive allele at
a second gene locus. For example, in a cross between a homozygous dominant (AA) and a
heterozygous recessive (Aa) organism, the dominant allele at the first locus will mask the
effect of the recessive allele at the second locus. The phenotype of the offspring will be the
same as the dominant parent (AA).
Dominant epistasis, on the other hand, occurs when one gene enhances the effect of
another gene. This can happen when a dominant allele at one gene locus enhances the
expression of a dominant allele at a second gene locus. For example, if a cross between two
heterozygous dominant (Aa) organisms, the dominant allele at the first locus will enhance
the expression of the dominant allele at the second locus. The phenotype of the offspring
will be different from either parent, and more extreme than either parent (AA).
Recessive epistasis can lead to the complete suppression of the phenotype associated with a
recessive allele, while dominant epistasis can lead to an increased expression of the
phenotype associated with a dominant allele. In recessive epistasis, the phenotype of the
offspring will be the same as the dominant parent, while in dominant epistasis, the
phenotype of the offspring will be different from either parent.
Recessive epistasis is more common in polygenic traits, where multiple genes are involved in
the expression of a phenotype. For example, in a trait like coat color in mammals, multiple
genes may be involved, and a dominant allele at one gene locus may suppress the
expression of a recessive allele at another locus. In contrast, dominant epistasis is less
common, but it does occur in some cases. An example of dominant epistasis is the
interaction between two genes that control the development of the eyes in Drosophila,
where the dominant allele at one locus enhances the expression of a dominant allele at
another locus.
Recessive epistasis is also known as "suppressor" epistasis, while dominant epistasis is also
known as "enhancer" epistasis. It is important to note that epistasis can also be affected by
environmental factors, and the same gene interactions can have different effects under
different conditions.

4 (a) What are the limitations of cis-trans test? 5

Ans. The cis-trans test is a genetic technique used to determine whether two genetic loci are
located on the same chromosome (cis) or on different chromosomes (trans). The cis-trans
test is based on the principle that if two loci are located on the same chromosome, the
probability of recombination between them is much lower than if they are located on
different chromosomes.
However, the cis-trans test is not without its limitations. One limitation is that it can only be
used to test for cis-trans interactions between two loci at a time. This means that if multiple
loci are suspected to interact in a cis-trans manner, multiple tests must be performed.
Another limitation is that the cis-trans test is not always definitive. The test relies on the
frequency of recombination between two loci, and there is some variation in recombination
rates within populations. Therefore, the cis-trans test can only provide a probability of
whether two loci are cis or trans, rather than a definitive answer.

(b) Describe the Griffith’s experiment on transformation. 5

Ans. Griffith's experiment, also known as the Griffith transformation, was a series of
experiments conducted in 1928 by Frederick Griffith, a British bacteriologist. The
experiment aimed to study the genetic properties of bacteria and to determine how
bacteria could acquire new traits.
Griffith used two strains of Streptococcus pneumoniae, a type of bacteria that causes
pneumonia. The first strain, known as the "smooth" strain, was virulent and able to produce
a capsule that protected it from the host's immune system. The second strain, known as the
"rough" strain, was avirulent and unable to produce the capsule.
In the first part of the experiment, Griffith injected mice with the smooth strain and
observed that the mice died. In the second part of the experiment, he injected mice with a
mixture of the smooth strain and the rough strain. To his surprise, the mice died, even
though the rough strain alone was not virulent.

5 (a) Differentiate between generalised and specialised transduction. 5

Ans. Generalized transduction and specialized transduction are two different types of
transduction in bacteria.
Generalized transduction is a process where a bacteriophage (a virus that infects bacteria)
randomly picks up and carries bacterial DNA from one host cell to another. During the
infection process, the phage can accidentally package a piece of bacterial DNA along with its
own genetic material. This packaged DNA is then transferred to a new host cell during phage
replication. The transferred DNA may contain genes that are beneficial, neutral or
detrimental to the new host cell.
On the other hand, specialized transduction is a process where a phage specifically picks up
and carries a specific piece of bacterial DNA from one host cell to another. This typically
occurs when a phage integrates its own DNA into a specific location on the bacterial
chromosome, and then excises itself, carrying a piece of the bacterial chromosome with it.
This type of transduction is less random and results in the transfer of a specific set of genes
from one host cell to another.

(b) Distinguish independent assortment from linkage in genetic crosses. 5

Ans. Independent assortment and linkage are two concepts that describe the inheritance of
genes in genetic crosses.
Independent assortment refers to the random distribution of alleles from different genes
during the formation of gametes (sex cells). When an organism produces gametes, the
alleles at different gene loci are randomly separated and distributed into different gametes.
This means that the inheritance of one gene is not affected by the inheritance of another
gene. As a result, the inheritance of different genes is independent of each other, and the
probability of inheriting a particular allele at one gene locus is not affected by the
inheritance of alleles at other gene loci.
Linkage, on the other hand, refers to the phenomenon where genes that are located close
to each other on the same chromosome tend to be inherited together. When genes are
linked, they are physically close together on the chromosome and are therefore more likely
to be inherited together during meiosis. This means that the inheritance of one gene is
affected by the inheritance of another gene. Linked genes are inherited as a unit and are
less likely to be separated during meiosis, resulting in a reduced frequency of recombination
between them.

PART-(B) Maximum marks: 50

1 Give an overview of development in Drosophila. 10
Ans. Drosophila, also known as the fruit fly, is a well-established model organism in
developmental biology. Its small size, short generation time, and large number of progenies
make it an ideal organism for genetic and molecular studies.
Development in Drosophila begins with fertilization, during which the sperm and egg nuclei
fuse to form a zygote. The zygote undergoes several rounds of cell division, known as
cleavage, to form a ball of cells called a blastoderm. The blastoderm then undergoes
gastrulation, during which the cells differentiate into three primary germ layers: the
ectoderm, mesoderm, and endoderm.
The ectoderm gives rise to the epidermis and nervous system. The mesoderm gives rise to
the muscles, heart, and blood cells. The endoderm gives rise to the gut and other internal
organs.
During embryonic development, the early body plan is established and segmentation, the
formation of repeated body segments, begins. This process is controlled by a group of genes
known as the segmentation genes, including the homeotic genes, which control the
development of specific body parts in each segment.
After embryonic development, the fly enters the larval stage. During this stage, the fly
undergoes several molts, during which it grows and develops further. The final molt leads to
the formation of the pupal stage, during which the fly undergoes metamorphosis to become
an adult.
At the molecular level, the development of Drosophila is controlled by a complex network of
genes and signaling pathways. Key players in this network include the transcription factors,
which control the expression of other genes, and signaling molecules such as the Hedgehog
and Wingless proteins, which control cell proliferation and differentiation.
The study of Drosophila has contributed significantly to our understanding of many
fundamental developmental processes, including cell fate determination, cell migration, and
cell signaling. In addition, many conserved developmental pathways and genetic
mechanisms have been found to be conserved in other organisms, including humans.
Therefore, the study of Drosophila has provided important insights into human
developmental biology and genetics.

2 (a) Indicate two differences in sex determination mechanism between human and
Drosophila. 2
Ans. Chromosome-based sex determination: In humans, sex is determined by the presence
of sex chromosomes, specifically the X and Y chromosomes. Females have two X
chromosomes (XX), while males have one X and one Y chromosome (XY). In contrast,
Drosophila uses a different mechanism for sex determination, known as the X:A system.
Females have two copies of the X chromosome (XX), while males have only one copy of the
X chromosome (XO).
Environmental sex determination: In addition to the chromosome-based mechanism, some
species of Drosophila also have environmental sex determination, which means that the sex
of the offspring is determined by environmental factors such as temperature. For example,
in Drosophila melanogaster, the sex of the offspring is determined by the temperature at
which the eggs are incubated. At higher temperatures, more males are produced, while at
lower temperatures, more females are produced. This type of sex determination mechanism
is not found in humans.

(b) What are the characteristic features of cytoplasmic inheritance? 4

Ans. Cytoplasmic inheritance refers to the transmission of genetic information through the
cytoplasm of cells, rather than through the nucleus. This can occur through a variety of
mechanisms, including:
Mitochondrial inheritance: Mitochondria are organelles found in eukaryotic cells that are
responsible for generating energy. They contain their own DNA and can replicate
independently of the cell's nucleus. As a result, the genetic information in the mitochondria
can be passed down from one generation to the next, leading to the inheritance of certain
traits.
Chloroplast inheritance: Chloroplasts are organelles found in plants and algae that are
responsible for photosynthesis. They also contain their own DNA and can replicate
independently of the cell's nucleus. As a result, the genetic information in the chloroplasts
can be passed down from one generation to the next, leading to the inheritance of certain
traits.

(c) Write a note on histone modification. 4

Ans. Histones are proteins that are tightly associated with DNA in the nucleus of eukaryotic
cells, forming structures called nucleosomes. Histones play a crucial role in regulating gene
expression by compacting and organizing DNA into a compact structure, which can either
make the DNA more or less accessible to the transcriptional machinery.
Histone modification refers to the addition of various chemical groups to the histone
proteins, which can alter their interactions with DNA and other proteins and thereby affect
the regulation of gene expression.
Some of the common types of histone modifications include:
Acetylation: The addition of an acetyl group to the lysine residues of histones can weaken
the interactions between the histones and DNA, making the DNA more accessible to the
transcriptional machinery.
Methylation: The addition of a methyl group to the lysine or arginine residues of histones
can either activate or repress gene expression depending on the specific residue and the
number of methyl groups added.
Phosphorylation: The addition of a phosphate group to the serine or threonine residues of
histones can alter the interactions between the histones and DNA, thereby affecting the
regulation of gene expression.

3 List the characteristics of the following:

(i) Autosomal dominant traits
Ans. Autosomal dominant traits are traits that are controlled by genes located on one of the
22 pairs of autosomes (non-sex chromosomes) and can be inherited from one generation to
the next. They are characterized by the following features:
A single copy of the dominant allele (the variant form of the gene) is sufficient to express
the trait.
The dominant allele masks the effect of the recessive allele (the non-variant form of the
gene), even if an individual inherits two copies of the recessive allele.
The inheritance pattern is Mendelian, meaning that the trait follows the rules of inheritance
established by Gregor Mendel.
The dominant allele can be inherited from either parent, and the trait can be passed on to
either male or female offspring.
If a person inherits the dominant allele from one parent, that person has a 50% chance of
passing the allele on to each of their offspring.

(ii) X-linked dominant traits 10

Ans. X-linked dominant traits are traits that are controlled by genes located on the X
chromosome (one of the two sex chromosomes) and can be inherited from one generation
to the next. They are characterized by the following features:
A single copy of the dominant allele (the variant form of the gene) is sufficient to express
the trait.
The dominant allele can be inherited from either parent, but the trait is usually expressed
more often in females than in males because females have two X chromosomes while males
have only one.
If a female inherits the dominant allele on one of her X chromosomes, she has a 50% chance
of passing it on to each of her offspring. If a male inherits the dominant allele on his X
chromosome, he will express the trait and will pass it on to all of his daughters, but none of
his sons.

4 Describe structural chromosomal aberrations. 10

Ans. Structural chromosomal aberrations refer to changes in the structure of chromosomes
that can occur during cell division. These changes can affect the number or the arrangement
of genetic material in the chromosomes, leading to variations in the phenotype of the
organism. Structural chromosomal aberrations can be classified into several types:
Chromosomal duplications: This type of structural aberration occurs when a segment of a
chromosome is copied and added to another location on the same chromosome or to a
different chromosome. This can lead to an extra copy of the genetic material, which can
cause an increase in the expression of certain genes and can lead to overgrowth or
malformations in the affected individual.
Chromosomal deletions: This type of structural aberration occurs when a segment of a
chromosome is lost. This can lead to a loss of genetic material and can cause various
malformations and developmental disorders, depending on the location and size of the
deletion.
Chromosomal inversions: This type of structural aberration occurs when a segment of a
chromosome breaks and reattaches in the reverse orientation. This can lead to a disruption
of the normal linear arrangement of the genetic material, and can cause various
malformations and developmental disorders, depending on the location and size of the
inversion.
Chromosomal translocations: This type of structural aberration occurs when a segment of a
chromosome breaks and reattaches to a different chromosome. This can lead to a
disruption of the normal linear arrangement of the genetic material, and can cause various
malformations and developmental disorders, depending on the location and size of the
translocation.
Chromosomal insertions: This type of structural aberration occurs when a segment of a
chromosome is inserted into a different chromosome. This can lead to an extra copy of the
genetic material, which can cause an increase in the expression of certain genes and can
lead to overgrowth or malformations in the affected individual.
Polyploidy: This type of structural aberration occurs when an organism has more than two
sets of chromosomes. This can happen when an organism has more than two copies of each
chromosome. This can lead to an overgrowth or malformations in the affected individual.
Structural chromosomal aberrations can occur as a result of errors during cell division,
exposure to certain chemicals or radiation, or as a result of inherited genetic mutations.
They can also be associated with an increased risk of certain types of cancer. Structural
chromosomal aberrations can be diagnosed using techniques such as karyotyping, which
involves analyzing the structure and number of chromosomes in a cell.
The effects of structural chromosomal aberrations can vary depending on the location and
size of the alteration, as well as the specific genetic material that is affected. Some
structural chromosomal aberrations may cause no symptoms, while others can lead to
serious health problems, including developmental delays, intellectual disability,
malformations, and increased risk of certain types of cancer.

5 (a) Describe ways to analyse quantitative traits. 5

Ans. There are several ways to analyze quantitative traits, including:
Descriptive statistics: This involves calculating measures such as mean, median, and
standard deviation to describe the distribution of the trait in a population.
Correlation analysis: This involves assessing the relationship between the trait and other
variables, such as age or environmental factors. Correlation coefficients, such as Pearson's r,
can be used to quantify the strength and direction of the relationship.
Regression analysis: This involves fitting a mathematical model to the data to predict the
value of the trait based on one or more predictor variables.
Heritability analysis: This involves estimating the proportion of total variation in the trait
that is due to genetic factors. Heritability can be estimated using methods such as twin
studies or genome-wide association studies (GWAS)
Principal component analysis (PCA) : This is a statistical technique that is used to identify
patterns in data. It is often used to reduce the dimensionality of large data sets.

(b) Explain the terms; orthologs, paralogs and xenologs. 5

Ans. Orthologs are genes in different species that have evolved from a common ancestor
and have similar functions. They often have high sequence similarity and conserved synteny
(the relative order of genes on a chromosome). Orthologs are often used to infer the
function of a gene in one species based on the known function of its ortholog in another
species.
Paralogs are genes in the same species that have arisen from duplication events. They often
have similar sequences and functions and are sometimes referred to as "sister genes."
Paralogs can diverge in function over time and may have different expression patterns or be
active in different tissues.