HUMAN GENETICS

Human genetics is the study of the inheritance of characteristics by children from parents.
Inheritance in humans does not differ in any fundamental way from that in other organisms.

PEDIGREE ANALYSIS

A pedigree is a diagram showing the ancestral relationships and transmission of genetic traits
over several generations in a family. It helps in studying different patterns of inheritance and
genetic traits of different individuals. In other words, we can define that pedigree analysis as
an analytical method, displaying data on the heredity of traits and disorders. It uses specific
symbols to represent the type of individuals and their relationship with each other.

Pedigree Analysis Chart

A pedigree analysis chart provides an important tool to study the inheritance of genes. It also
gives precise information about the family members through diagrammatic representation.
Sometimes, it is also known as the “family or genealogic tree“. A pedigree chart also entails
information about genetic disorders in the family history. It uses internationally accepted
symbols, lines, numbers and letters to illustrate different individuals, their interrelationship, the
number of individuals, and the number of generations. It gives an idea to understand the mode of
inheritance of human traits and diseases.

Pedigree Chart Symbols:

1
Squares represent males. A circle represents females, and a diamond indicates undetermined
gender. A number within the symbol indicates multiple individuals. An arrow pointing towards
the symbol indicates proband individuals or they usually have the disorder of interest. A slash
through the symbol represents deceased individuals. A fully shaded symbol indicates affected
individuals. A central dot within a symbol depicts a carrier. Two arrows merging on the top of
symbols determine fraternal twins. A line between the two symbols and two arrows merging at
the top represents identical twins. A letter ‘A’ within the symbol and double brace indicates
an adopted child. Besides these, other symbols are also illustrated in the above diagram. You
can memorize all the symbols given in the diagram above to analyze the heredity of traits and
disorders in the family history.

Types of Pedigree Analysis

Based on linked chromosomes, pedigree analysis is classified into:

1. Sex-linked pedigree: This is subdivided into:

 X-linked pedigree, which is further divided into X-linked dominant pedigree and X-
linked recessive pedigree.
 Y-linked pedigree

2. Autosomal pedigree: This is divided into:

 Autosomal dominant pedigree

 Autosomal recessive pedigree

2
Depending upon the patterns of inheritance, a pedigree chart has five different types.

Autosomal dominant pedigree chart: To determine autosomal dominant inheritance, you must
keep the following features in your mind:
 Males and females get affected in the same ratio.
 The genetic traits express themselves in each generation or never skips a generation.
 Two affected parents can produce an unaffected child.
 Unaffected parents produce unaffected offspring.
 Heterozygotes are also affected.
Autosomal recessive pedigree chart: To determine autosomal recessive inheritance, look for
the following features:
 Males and females are affected in the same ratio.
 The genetic trait may skip a generation.
 Two affected parents will only produce affected children.
 Unaffected parents may produce affected offspring since they are carriers or heterozygotes.
 Heterozygotes have a normal phenotype.
X-linked dominant pedigree chart: To determine x-linked dominant inheritance, look for the
following features:
 Both males and females are likely to be affected.
 The genetic traits may skip a generation.
 The affected father can transfer the disease to all female individuals.
 Male to male disease transmission does not occur.
X-linked recessive pedigree chart: To determine x-linked recessive inheritance, you must keep
the given features in your mind:
 Males are relatively more affected than females.
 The genetic trait never skips a generation.
 Only the affected mother can transfer the disease to the male individuals.

3
 Disease transmission from a father to a son will not occur.
Y-linked recessive pedigree chart: To determine y-linked recessive inheritance, you must keep
the following features in your mind:
 Only males are affected.
 Y-chromosome carries the genetic trait.
 Disease transmission occurs from a father to a son.
Importance

 Pedigree analysis reveals the family history by studying the inheritance of traits and
diseases between family members across generations.
 It also helps in genetic counselling.
 It determines the dominant or recessive nature of the trait.
 The pedigree chart also entails the type of chromosome (autosomal or sex).
 We can also identify genotypes as well as phenotypes of family members.
 Determining the probabilities of phenotypes in future generations becomes easy through
pedigree analysis.

ASSIGNMENT:
1. Differentiate between Family Tree and Pedigree
2. How can you read a Pedigree chart?

4
 HUMAN KARYOTYPE
A karyotype is the general appearance of the complete set of chromosomes in the cells of
a species or in an individual organism, mainly including their sizes, numbers, and
shapes. Karyotyping is the process by which a karyotype is discerned by determining the
chromosome complement of an individual, including the number of chromosomes and any
abnormalities. The grouping of chromosomes within cells, are organized by shape, size and
features. There are 46 (23pairs) chromosomes in the human somatic cells, these chromosomes
are descendingly arranged in homologous pairs according to their size from number (1) to
number (23)
Types of chromosomes in a karyotype
Within the study of karyotypes, two types of chromosomes can be evaluated:
 Autosomal.
 Sexual
Autosomal chromosomes tend to have the same characteristics, either for men or women, and
humans have 22 pairs of this category in their chromosome structure.
Sex chromosomes: these define the sex of the individual, so if they form two XX, it will be
female, but if it creates XY it will be male.
The basic number of chromosomes in the somatic cells of an individual or a species is called
the somatic number and is designated 2n. In the germ-line (the sex cells) the chromosome
number is n (humans: n = 23).Thus, in humans 2n = 46.
So, in normal diploid organisms, autosomal chromosomes are present in two copies. There may,
or may not, be sex chromosomes. Polyploid cells have multiple copies of chromosomes
and haploid cells have single copies. The karyotype is often confused with Idiogram, which is
incorrect. Idiogram is a schematic diagram of a karyotype that illustrates all chromosome maps.

Significance of Karyotyping
1. It can be used in clinicaldiagnosis.
2. The karyotype tells about the structure of each chromosome and determines the genetic
changes in an individual. A karyotype can detect both structural and numerical anomalies in an
individual.
3. Karyotypic analysis can give information like detection of birth defects, genetic disorders, and
even some forms of cancers.

Uses of Karyotyping

1. To detect the chromosomal mutation.

2. To detect aneuploidy condition.
3. Diagnosis of specific congenital disabilities, genetic disorders, and even cancers.
4. Forensic testing.
5. Paternity testing.

5
 BLOOD GROUPING

Principle of Blood Grouping

The human blood consists of 4 main components, the red blood cells, the white blood cells, the
plasma and the platelets. The red blood cells are the components that help in determining a
person’s blood type. The ABO system is the main blood grouping system behind the principle
that helps classify people into one of the following four groups, i.e., A, B, AB or O. Your blood
group is identified by antibodies and antigens in the blood. Antibodies are proteins found in
plasma. They're part of your body's natural defences. They recognise foreign substances, such as
germs, and alert your immune system, which destroys them while Antigens are protein molecules
found on the surface of red blood cells.

The ABO system: There are 4 main blood groups defined by the ABO system

 blood group A – has A antigens on the red blood cells with anti-B antibodies in the
plasma
 blood group B – has B antigens with anti-A antibodies in the plasma
 blood group O – has no antigens, but both anti-A and anti-B antibodies in the plasma
 blood group AB – has both A and B antigens, but no antibodies
Blood group O is the most common blood group. This is called the basic grouping system.

The Rh system- Rhesus factor or ‘Rh’ factor

The name Rhesus originated from the Rhesus monkeys in which the antigen was first found. If
the Rhesus factor D is found in the blood, then the person is said to be Rhesus positive, and for
people who do not have the Rhesus factor D, they are said to be Rhesus negative. So, when
people are classified according to both systems, they are said to have AB positive blood or O
negative blood for example. The Rhesus factor plays an important role during pregnancy because
an infant’s life can be threatened if the infant inherits a Rhesus positive blood type from the
father, while the mother’s blood is Rhesus negative. This will cause the mother’s body to form
antibodies against the baby’s blood.

Here are some of the combinations of Blood Group Types that are Compatible:

 A person with type A blood is permitted to donate blood to persons with blood types A or
AB.
 A person with type B blood will be able to donate blood to persons with blood types B or
AB.
 Persons with type AB blood will only be able to persons with the same blood type.
 Persons with type O blood will be able to donate blood to persons with any blood type,
and are therefore referred to as ‘Universal Donors.’

6
 GENETIC COUNSELLING
Genetic counseling is the process of investigating individuals and families affected by or at risk
of genetic disorders to help them understand and adapt to the medical, psychological and familial
implications of genetic contributions to disease; this field is considered necessary for the
implementation of genomic medicine.

Reasons for Genetic Counseling

Based on your personal and family health history, your doctor can refer you for genetic
counseling. There are different stages in your life when you might be referred for genetic
counseling:

 Planning for Pregnancy: Genetic counseling before you become pregnant can address
concerns about factors that might affect your baby during infancy or childhood or your
ability to become pregnant
 During Pregnancy: Genetic counseling while you are pregnant can address certain tests
that may be done during your pregnancy, any detected problems, or conditions that might
affect your baby during infancy or childhood
 Caring for Children: Genetic counseling can address concerns if your child is showing
signs and symptoms of a disorder that might be genetic

 Managing Your Health: Genetic counseling for adults includes specialty areas such as
cardiovascular, psychiatric, and cancer. Genetic counseling can be helpful if you have
symptoms of a condition or have a family history of a condition that makes you more
likely to be affected with that condition

CHROMOSOMES AND GENE INTERACTION

Chromosomes

A chromosome is made of a very long strand of DNA and contains many genes (hundreds to
thousands). The genes on each chromosome are arranged in a particular sequence, and each
gene has a particular location on the chromosome (called its locus). In addition to DNA,
chromosomes contain other chemical components that influence gene function.

Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific
protein that functions in one or more types of cells in the body. Chromosomes are structures
within cells that contain a person's genes.

Gene Interaction
Gene interaction is the phenomenon whereby a single character is controlled by two or more
genes and each gene affects the expression of the other genes involved or the process by which
the expression of two or more genes influences one another in different ways as an organism
develops a single characteristic. The majority of the traits that comprise living beings are

7
coordinated by various genes. Mendel and other researchers assumed that characters were
controlled by a single gene, but it was later found that multiple characters were controlled by two
or more genes. The expression of one gene is influenced by the expression, present or absent, of
another gene in a gene interaction.

Types of Gene Interaction

Gene interactions are divided into two categories:

1. Allelic or Non-epistatic Gene Interaction: This gene interaction occurs between the
alleles of a single gene.
2. Non-allelic or Epistatic Gene Interaction: This gene interaction involves interactions
between genes on identical or distinct chromosomes.

Allelic or Non-epistatic Gene Interaction

When phenotypic ratios diverge from Mendelian ratios, it is difficult for Mendelian genetics to
explain some types of inheritance. This is because specific alleles can often be equally or
partially dominant to each other or due to the lethal alleles. Allelic, non-epistatic or intra-allelic
interactions are the terms used to describe genetic interactions between alleles of a single gene.

Non-allelic or Epistatic Gene Interaction

When two or more genes affect each other’s expression in various ways, non-allelic or epistatic
or inter-allelic interaction takes place, resulting in the development of a single character.

Biological Significance
Genetic interactions have significant effects on how genotype and phenotype are related. They
have been put out as an explanation for missing heritability. The term “missing heritability”
describes how many heritable characteristics still have unidentified genetic ancestors. Genetic
interactions could significantly reduce the amount of missing heritability
CHROMOSOME MAPPING
Chromosome mapping is an exciting technique that can be used to visualize your DNA and help
you see the segments of DNA you inherited from your ancestors. Using your Autosomal DNA
results, you can build a map of your chromosomes that shows segments that are inherited from
specific ancestors or ancestral couples. Chromosome mapping is a more advanced technique you
can use as you become increasingly familiar with DNA.

GENETIC ENGINEERING
Genetic engineering, also called genetic modification, is the direct manipulation of an
organism’s genome using biotechnology. It is a set of technologies used to change the genetic
makeup of cells, including the transfer of genes within and across species boundaries to produce
improved or novel organisms.

8
 Applications of Genetic Engineering
Medicine, research, industry and agriculture are a few sectors where genetic engineering applies.
It can be used on various plants, animals and microorganisms. The first microorganism to be
genetically modified is bacteria.

In Medicine: Genetic engineering can be applied to; Manufacturing of drugs, Creation of model
animals that mimic human conditions and Gene therapy, Human growth hormones, Follicle-
stimulating hormones, Human albumin, Monoclonal antibodies, Antihemophilic factors,
Vaccines

In Research: Genes and other genetic information from a wide range of organisms can be
inserted into bacteria for storage and modification, creating genetically modified bacteria in the
process.

In Industry: Transformation of cells in organisms with a gene coding to get a useful protein,
Medicines like insulin, human growth hormone, and vaccines, supplements such as tryptophan,
aid in the production of food (chymosin in cheese making) and fuels are produced using such
techniques.

In Agriculture: Genetically modified crops are produced using genetic engineering in

agriculture, such crops are produced that provide protection from insect pests, It is used or can be
used in the creation of fungal and virus-resistant crops.

Benefits of Genetic Engineering

1. The production of genetically modified crops is a boon to agriculture.

2. The crops that are drought-resistant, disease-resistant can be grown with it.
3. As described earlier, genetic disorders can be treated.
4. The diseases such as malaria, dengue can be eliminated by sterilising the mosquitoes
using genetic engineering.
5. Therapeutic cloning

9
 CHROMOSOME

A chromosome is a thread-like structure located in the nucleus of cells such as plant, animal and
human cells. Each chromosome is made of a molecule of DNA (Deoxyribonucleic acid) and
histone proteins. The shape of chromosomes varies from species to species. For example,
bacteria generally have circular chromosomes. Whereas, plants, animals, and humans have linear
chromosomes in their cells. The number of chromosomes also varies from species to species.
However, its number is the same for all the cells of a given species. All human cells are somatic
cells except for sex cells such as sperm and egg cell.

Somatic cells are diploid (2n) as they contain 23 pairs of chromosomes; two copies of each
chromosome. However, only the gametes or sex cells such as human sperm and egg are
haploid (1n) as they have one copy of each chromosome (only one chromosome of a pair). The
two gametes fuse to form a single diploid (2n) cell that contains two copies of each
chromosome. Thus, one set of chromosome comes from father and second set comes from the
mother. The major function of Chromosomes is to provide stability to DNA and to ensure that
the DNA is replicated and distributed equally during cell division.

Structure of Chromosome/Main Parts of a Chromosome

A chromosome is made of histone proteins and DNA strands that form a 3-dimensional (3D)
structure called a double helix. A chromosome generally has eight parts.

ÀSSIGNMENT: Write briefly on these eight parts

Types of chromosomes

All the 46 chromosomes in a human cell are of different types based on their shape, structure, and
function.

i) Chromosome types based on the number of centromeres present on a chromosome:

o Monocentric: This type of chromosome has only one centromere.

o Dicentric: It has two centromeres.
o Polycentric: It has more than two centromeres.
o Acentric: It does not have any centromere. Such chromosomes are freshly broken
segments of chromosomes that do not survive for long.
o Diffused or non-located: It does not have distinct centromere. Its centromere is diffused
throughout the length of the chromosomes.

10
ii) Chromosomes types based on the location of the centromere on a chromosome:

o Metacentric: In this type of chromosome, the centromere is located almost at the centre
of the chromosome due to which the two arms (p arm and q arm) of the chromosome are
almost of equal length and the chromosome acquire its characteristic V-shape. For
example, human chromosome 1, 3, 16, 19 and 20 are metacentric chromosomes.
o Sub-metacentric: The centromere is located slightly away from the centre or mid-point,
so, the arms are not equal in length; p arm is shorter than q arm forming its
characteristic L shape. For example, human chromosome 2, 4 to 12, 17, 18 and X are
sub-metacentric chromosomes.
o Acrocentric: The centromere is present far from the centre almost near the end region of
the chromosome. The sub-terminal position of centromere gives rise to a very short p arm
and a very long q arm. For example, human chromosome 13, 14, 15, 21, 22 and Y are
acrocentric chromosomes.
o Telocentric: It is a rod-shaped chromosome in which the centromere is located at the
proximal end (tip) of the chromosome, so, the p arm does not exist. It is not found in
humans.

iii) Types of Chromosomes based on their function:

Autosomes: In a human cell out of the 46 chromosomes (23 pairs), 44 chromosomes (22
pairs) are autosomes. They control the somatic characteristics of an organism such as body
weight, height, colour, etc.

Sex chromosomes: One out of the 23 pairs of the chromosomes or the last pair of the
chromosomes in a human cell, which help in determining the sex of an individual, is called
sex chromosomes. They are also known as Allosomes.

11
 Chemical composition of chromosome

It is made of three components, DNA, proteins and RNA in small amounts. The amount of
DNA ranges from 30 to 40 %, the amount of proteins from 50 to 65%, and small amount of RNA
from 1 to 10% that is formed during DNA transcription. However, this chemical composition
may vary from organism to organism. The protein present in DNA is of two types histone and
non-histones proteins. The histone protein is present in large amount (90% of total protein),
whereas non-histone is present in small amount (around 10% of total protein).

Sex Determination in Humans

This is also called sex linkage in human and it applies to genes that are located on the sex
chromosomes. So, Sex linkage is the phenotypic expression of an allele that is dependent on the
gender of the individual and is directly tied to the sex chromosomes. The condition in which a
particular gene is located on a sex chromosome, especially on the X-chromosome, so that the
character controlled by the gene is associated with either of the sexes. A number of genetic
disorders are sex-linked, including Duchenne muscular dystrophy and hemophilia, which are
common in boys than girls, also colourblindness.
There are 22 pairs of autosomes that are present in human beings. They also have one pair of sex
chromosomes. The females are homogametic in nature. This means that all the ova that are
formed by the female have similar chromosomes in them that is X chromosomes. The male has
an additional Y chromosome and this is present in a 50% ratio and the rest 50% is by the X
chromosome. So we can say that males produce two types of chromosomes. And at the time of
fertilization, there is an equal probability of either the X or the Y chromosome fusing with the
egg that has only the X chromosome. So a girl child is born when both the X chromosomes come
together and a boy child is born when the Y chromosome fuses with the X chromosome.

12
 INTRODUCTION TO MICROBIAL EPIGENETICS
Epigenetics has been defined as the study of stable alterations in gene expression potentials that
arise during development and cell proliferation, or alterations in DNA function without
alterations in DNA sequence. Modern epigenetic features refer to the alteration of DNA and/or
associated proteins without nucleotide sequence variance, which transmits the data contained to
the next generation. It has been considered that diseases are generally influenced by obtained
biological alterations, but it is becoming evident that any phenotype is the result of a complex
interplay between genotype, epigenome, and environment. Epigenetics concentrates on pathways
that control how and when specific genes are turned on and/or off, while epi-genomics assess
epigenetic changes in a cell or whole organism across many genes.

Epigenetic alterations induced by microbial invasion

Numerous studies have exhibited that specific pathogens (Helicobacter pylori, Streptococcus
bovis, Chlamydia pneumoniae, Campylobacter rectus, Epstein-Barr virus, hepatitis virus, human
papillomavirus, polyomavirus, etc.) may result in the epigenetic variations of the host, leading to
the onset and progression of certain diseases, particularly malignancies. The mutualistic
microorganisms of coral reef cnidarian symbiosis, pea aphids, and cactuses have been involved
in epigenetic thermotolerance differences. As obligate intracellular parasites, microbial
manipulation of host epigenetic marks has helped to enhance numerous ways of hijacking the
cell system to ensure the implementation of their life cycle and sometimes to escape their host's
immune responses. Microbes that cause prolonged infections are likely to gain from inherited
host transcription epigenetic changes that create an environment for their latent or continuous
state without the inciting effectors having to be constantly expressed. As it aims for such
epigenetic control, host genes involved in cell cycle progression, senescence, survival,
inflammation, and immunity are the main targets. Some severe bacterial infections are also
linked with malignancy, with the human gastric mucosa disease of Helicobacter pylori being the
most thoroughly researched. In addition, many microbes have progressed ways of avoiding the
immune response, and these mechanisms have again involved gene mutations in host cells.
DNA methylation is being used by most epigenetic processes known in bacteria as a sensor that
controls a particular connection between DNA and protein. Generally, these systems consist of
DNA methylase and DNA binding protein(s) that connect to DNA sequences that coincide with
the target methylation site, obstructing that site's methylation. In turn, methylation of the target
site restricts protein binding, leading in methylated and non-methylated, two optional
methylation states of the target site. Mechanisms unassociated with the transmission of bacterial
restriction-modification systems appear to instigate the epigenetic modifications caused by

13
contaminating bacteria in multicellular eukaryotes and portray a novel research field to be
researched.

Pathogen-induced modifications of the host

In the scientific literature, pathogen-induced modifications in host physiology, morphology, and
behavior are thoroughly reported. Perhaps the most fascinating examples of these modifications
are those that have been shown to be the outcome of the pathogen's deceptive tactic to maximize
its survival and transmission. Even so, evidence has emerged in the last few years that histone
modifications and chromatin remodeling enforce gene expression and are therefore key targets
during infection for pathogen manipulation. The immune system of the host is one such evident
target. In recent years, as a comparably regular sight of pathogenic viral and bacterial infections,
epigenetic modification of the host transcriptional program connected to host defense genes has
surfaced. Bacteria are the cornerstone of microbe epigenetic studies and supply several
pioneering instances of host gene reprogramming caused by contamination.

14
GENETIC MATERIAL
Genetic material is the cell’s hereditary component. It houses all of an organism’s distinct data.
It’s also known as DNA (deoxyribonucleic acid) or RNA (ribonucleic acid) (ribonucleic acid).
Where can you find genetic material? DNA is found in the cytoplasm of prokaryotes such as
bacteria. DNA is present in the nucleus of eukaryotes such as plants and animals (nuclear DNA)
and, to a lesser extent, in extranuclear locations such as mitochondria (containing mtDNA) and
chloroplasts (containing chloroplast DNA) (containing cpDNA).Plasmids are pieces of genetic
material located outside of bacteria’s chromosomes. A gene, a segment or set of genes, or even
the whole genome might be found in genetic material. The three forms of genetic material are
DNA, RNA, and genes.

Genetic information is transmitted from one generation to the next during reproduction. It might
be done in a sexual or asexual way. The “clone” obtains genetic information that is identical to
its parent in asexual reproduction. In sexual reproduction, on the other hand, the “offspring”
inherits genetic material from both their father and mother. As a result, the offspring’s genetic
material is not a carbon duplicate of its parents’.

Genetic Material Structure

The genetic material of a human cell is in the form of double-stranded DNA molecules that
create a double helix structure. It is made up of two DNA strands formed by a sequence of
nucleotides. The two strands split during cell replication, resulting in the formation of two new
DNA molecules. The original DNA molecule and the freshly duplicated DNA molecule are
identical. Guanine (G), cytosine (C), adenine (A), and thymine (T) are the four nucleotides that
make up DNA. On the other hand, C is coupled with G, while A is paired with T, creating a base.
A nucleotide is formed when a base is joined to a phosphate molecule and a ribose sugar.

Some viruses have RNA as their genetic material. It is made up of a single strand with a
phosphate group, sugar, and nucleotides on one end. Furthermore, the RNA strand’s bases are as
follows: Guanine (G), cytosine (C), adenine (A), and uracil (U), with uracil replacing thymine in
DNA. The base pairs of RNA are identical to those of DNA, with the exception that adenine and
uracil are coupled.

Genetic Material Function

The genetic material is crucial since it contains all of the information about the creature.
Individuals’ genetic composition differs due to variations in the sequence and order of the
nucleotides that make up DNA. In order to keep genetic material secure, DNA strands are
extremely condensed and ordered in the cell. It should, however, be accessible to the cell for use
as a template in biological activities like protein synthesis. The cell uses the DNA strand as a
guide to synthesizing proteins, since DNA is utilised to make messenger RNA, which is
complementary to one of the DNA strands. Ribosomal RNA then translates the messenger RNA
into proteins made up of different amino acids. The genetic code is the sequence of amino acids.

15
 Characteristic of Genetic Material

Every cell has genetic information. It contains all of the organism’s data. It changes depending
on the organism. It regulates several activities within the cell, as well as cell replication and the
creation of new cells. It also takes into account the diversity of organisms. DNA is the genetic
substance found in all cells. It is handed down through the generations via DNA. Previous
generations are linked to an individual through genetic information. Individual traits like hair and
skin colour, as well as other invisible or recessive qualities, are inherited by genes. Some genetic
alterations (mutations) may impact an individual’s genetic material and may be passed down to
the next generation. Other alterations may not impact genetic material and, as a result, are not
passed down to kids. The DNA sequence is currently being utilised to develop new treatments
for hereditary disorders that are difficult to treat.

16
 PROTEIN SYNTHESIS

Protein synthesis is the creation of proteins by cells that uses DNA, RNA, and
various enzymes. Protein synthesis can be divided broadly into two phases
- transcription and translation. Prokaryotic and eukaryotic protein syntheses have distinct
differences. For instance, protein synthesis in prokaryotes occurs in the cytoplasm. In eukaryotes,
the first step (transcription) occurs in the nucleus. When the transcript (mRNA) is formed, it
proceeds to the cytoplasm where ribosomes are located.

Transcription

Transcription is the transfer of genetic instructions in DNA to mRNA. During transcription, a

strand of mRNA is made to complement a strand of DNA. Transcription begins when the
enzyme RNA polymerase binds to a region of a gene called the promoter sequence. This signals
the DNA to unwind so the enzyme can “read” the bases of DNA. The two strands of DNA are
named based on whether they will be used as a template for RNA or not. The strand that is used
as a template is called the template strand, or can also be called the antisense strand.

Processing mRNA

In eukaryotes, the new mRNA is not yet ready for translation. At this stage, it is called pre-
mRNA, and it must go through more processing before it leaves the nucleus as mature mRNA.
The processing may include splicing, editing, and polyadenylation. These processes modify the
mRNA in various ways. Such modifications allow a single gene to be used to make more than
one protein.

 Splicing removes introns from mRNA, as shown in Figure 5.7.3. Introns are regions that do not
code for the protein. The remaining mRNA consists only of regions called exons that do code for
the protein. The ribonucleoproteins in the diagram are small proteins in the nucleus that contain
RNA and are needed for the splicing process.
 Editing changes some of the nucleotides in mRNA. For example, a human protein called APOB,
which helps transport lipids in the blood, has two different forms because of editing. One form is
smaller than the other because editing adds an earlier stop signal in mRNA.
 5′ Capping adds a methylated cap to the “head” of the mRNA. This cap protects the mRNA
from breaking down, and helps the ribosomes know where to bind to the mRNA
 Polyadenylation adds a “tail” to the mRNA. The tail consists of a string of As (adenine bases). It
signals the end of mRNA. It is also involved in exporting mRNA from the nucleus, and it
protects mRNA from enzymes that might break it down.

17
 Translation

Translation is the process in which the genetic code in mRNA is read to make a protein. After
mRNA leaves the nucleus, it moves to a ribosome, which consists of rRNA and proteins. The
ribosome reads the sequence of codons in mRNA, and molecules of tRNA bring amino acids to
the ribosome in the correct sequence.

Translation occurs in three stages: Initiation, Elongation and Termination.

Initiation

After transcription in the nucleus, the mRNA exits through a nuclear pore and enters the
cytoplasm. At the region on the mRNA containing the methylated cap and the start codon, the
small and large subunits of the ribosome bind to the mRNA. These are then joined by a tRNA
which contains the anticodons matching the start codon on the mRNA. This group of molecues
(mRNA, ribosome, tRNA) is called an initiation complex.

Elongation

tRNA keep bringing amino acids to the growing polypeptide according to complementary base
pairing between the codons on the mRNA and the anticodons on the tRNA. As a tRNA moves
into the ribosome, its amino acid is transferred to the growing polypeptide. Once this transfer is
complete, the tRNA leaves the ribosome, the ribosome moves one codon length down the
mRNA, and a new tRNA enters with its corresponding amino acid. This process repeats and the
polypeptide grows.

Termination

At the end of the mRNA coding is a stop codon which will end the elongation stage. The stop
codon doesn’t call for a tRNA, but instead for a type of protein called a release factor, which will
cause the entire complex (mRNA, ribosome, tRNA, and polypeptide) to break apart, releasing all
of the components.

18
 MUTATION
Mutation is the change in our DNA base pair sequence due to various environmental factors
such as UV light, or mistakes during DNA replication. A mutation is a sudden, heritable
modification in an organism’s traits. The term “mutant” refers to a person who exhibits these
heritable alterations. Mutations usually produce recessive genes.

Classification & Types of Mutations

Mutation Examples of
Types Description
Classifications Human Disease(s)

During replication, one base is inserted

incorrectly, replacing the pair at the
Substitution Sickle-cell anemia
appropriate location on the
complementary strand.

In replicating DNA, one or more

One form of beta-
Point mutation Insertion additional nucleotides are added,
thalassemia
frequently causing a frameshift.

During replication, one or more

nucleotides may be “skipped” or
Deletion Cystic fibrosis
removed, which usually causes a
frameshift.

The flipping and reinserting of a single Opitz-Kaveggia

Inversion
chromosomal region. syndrome

When a chromosome segment is lost,

Cri du chat
Deletion all the genes in that segment are also
syndrome
gone.
Chromosomal
mutation A chromosomal segment is repeated,
Duplication increasing the concentration of the Some cancers
genes in that area.

A section of one chromosome is

One form of
Translocation inappropriately joined to another
leukemia
chromosome.

19
 Gene An increase is made in the tandem Some breast
amplification copies of a locus. cancers

Copy number
variation Fragile X
Expanding
There are more repeating trinucleotide syndrome,
trinucleotide
sequences than usual. Huntington’s
repeat
disease

Causes of Mutations
The mutation is caused due to the following reasons:

Internal Causes
Most of the mutations occur when the DNA fails to copy accurately. All these mutations lead to
evolution. During cell division, the DNA makes a copy of its own. Sometimes, the copy of the
DNA is not perfect and this slight difference from the original DNA is called a mutation.

External Causes
When the DNA is exposed to certain chemicals or radiations, it causes the DNA to break down.
The ultraviolet radiations cause the thymine dimers to break resulting in a mutated DNA.

Effects of Mutation

Beneficial Effects of Mutation

1.
1. Few mutations result in new versions of proteins and help the organisms to adapt
to changes in the environment. Such mutations lead to evolution.
2. Mutations in many bacteria result in antibiotic-resistant strains of bacteria that can
survive in the presence of antibiotics.
3. A unique mutation found in the population of Italy protects them from
atherosclerosis, where fatty materials build up in the blood vessels.

Harmful Effects of Mutations

1. Genetic disorders can be caused by the mutation of one or more genes. Cystic fibrosis is
one such genetic disorder caused by the mutation in one or more genes.
2. Cancer is another disease caused by the mutation in genes that regulate the cell cycle.

20