GENETICS

Presented by
Manisha Rani Naik
(Msc Nursing 1st year
 GENETICS
[Link] OF CELLULAR DIVISION,
MUTATION & LAW OF INHERITANCE,
HUMAN GENOME PROJECT, GENOMIC
ERA.
INTRODUCTION: - Cell is a basic functional and structural unit of
living organism. The cells composing the body continue to divide
through life, an essential process so fundamental to the existence, cell
division ensures sustenance and progression of life
As the cell growth, they reproduce themselves, where a diploid cell splits
to produce new diploids, each of which is a replication of the originals.
Without cell division, an organism’s cells would not regenerate, resulting
in not only cell death but also the death of entire organisms .
DEFINITION OF CELL DIVISION: -
a)The cell cycle division is the series of events that take
place in a cell leading to its division and multiplication.
b)Cell division is the process by which a single cell
divides into two or more daughter cells. It is a
fundamental mechanism in growth, develop and tissue
repair.

Gray’s Anatomy
TYPES: -There are two types of cell division.
A)Mitosis
- The process that the cells use to make exact replicas of
themselves is mitosis. Mitosis is observed in almost all the
body’s cells, including eyes, skin, hair & muscle cells.
Occurs in somatic cell. (Body)
A)Meiosis
● In this type of cell division, sperm or egg cells are produced
with haploid set of chromosomes instead of identical
daughter cells as in mitosis.
● Occurs in reproductive cells to form sperm & egg.
Phases of cell cycle: -
-The period between two cell division is known as the cell
cycle.
- This has two phases that can be seen on light microscopy.
a) Interphase
b) Mitosis (M phase)
a) Interphases:
Interphase is often referred to as the preparatory phase of the
cell cycle because it is when the cell prepares itself for
division
I. It is also called the resting phase.
[Link] is the longest phase of the cell cycle where the cell
prepares for division.
[Link] is a series of changes that takes place in a newly formed cell
and it is newly before it becomes capable of division again.
[Link] interphase cell is metabolically quick active (energy
stored).
[Link] accounts for around 90% of the cell cycle and is
described as a phase of growth, DNA replication, and
preparation for mitosis.
[Link] is divided in to three primary phase.
⮚G1 phase
⮚G0 phase
⮚S – phase
⮚G2 phase
1.G1 PHASE/FIRST GAPE/GROWTH: -
⮚The cell grows in size, performs routine function &
synthesizes proteins & RNA required for DNA replication.
⮚Mitochondria & chloroplasts (in plant cells) divide and
organelles increase in number.
⮚The cell checks the environment for favourable conditions to
proceed.
⮚Protein synthesis occur.
2.G0 (G not)/QUIESCENT PHASE: -
⮚Some cells exist the active cell cycle and enter a resting or
quiescent state.
⮚G0 phase also takes place after the interphase.
The cells remain metabolically active but does not divide. (e.g.
Neurons)
 1.S – PHASES/ SYNTHESIS OF DNA: -
⮚The DNA is replicated, ensuring that each chromosome consists
of two identical sister chromatids.
⮚Histones are synthesized & assembled with the replicated DNA
into chromatin.
⮚Centrosome duplication occurs essential for miotic spindle
formation.
1.G2 PHASES (2ND GAP PHASE): -The G2 phase, also
known as the second gap phase, is a stage in the cell cycle
that occurs after DNA replication (S phase) and, before
mitosis (M phase).
During this phase, the RNA, proteins, other
macromolecules required for multiplication of cell
organelles, spindle formation and cell growth are
produced as the cell prepares to go into the mitotic phase.
M PHASE/MITOSIS: -
Mitosis is the process of forming identical daughter cells
by replicating and dividing the original chromosomes in
effect making a cellular xerox.
⮚Mitosis deals only with the segregation of the
chromosomes and organelles into daughter cells.
⮚Since the number of chromosomes in the parent and
progeny cells in the same, it is also called as equational
division.
FEATURES: -
⮚It occurs only in somatic cells.
⮚It ensures sustenance of life.
⮚The daughter cells carry same number of chromosomes as
parent cell.
Precise nuclear division and not so precise cytoplasmic division
begin simultaneously
⮚Mitosis is divided into the following four stage: -
a)Prophase
b)Metaphase
c)Anaphase
d)Prophase
) Prophase: -
a

⮚Prophase is the first stage of mitosis, during which the cell

prepares for division by organizing its genetic material and
cellular structure.
⮚At the beginning of the prophase, the chromosomes become
contracted & thus much thicker & can be fixed and stained.
⮚Chromatin condenses into visible chromosomes. Each
chromosome is composed of two sister chromatids held together
by a centromere.
⮚The nuclear membrane and nucleolus begin to disintegrate.
⮚Centrioles (in animal cells) migrate to opposite poles of the cell.
 Mitotic spindle fibres made of microtubules begin to form between the
centrioles
b)Metaphase: -
⮚Metaphase is the second phase of mitosis, where chromosomes
align at the cells equational plane to ensure accurate
segregation into daughter cells.
⮚The nuclear membrane disappears and chromosomes become
oriented in the centre of the nucleus.
⮚The spindle formation occurs at this time.
⮚This structure is responsible for the movement of chromosomes
to the opposing poles of the cell.
⮚The centrosome divides into two and moves to the opposing
poles of the nucleus and remains in connection with the
spindle.
c )Anaphase
⮚Anaphase is the third phase of mitosis.
⮚The centrosome split, separating the sister chromatids.
The separated chromatids (now called chromosome) are pulled to
opposite poles of the cell bye the shortening of spindle fibres
⮚ This divided centromere then repels each other, so that the two
chromatids are dragged apart in opposite directions towards the poles
of the spindle.
D)Telophase
i. Telophase is the fourth and final phase of mitosis, where the cell
completes nuclear division & begins transitioning into cytokinesis.
[Link] arrive at opposite poles and begin to decondense back
into chromatin.
[Link] nuclear envelope reforms around each set of chromosomes
creating two nuclei.
[Link] nucleolus reappears within each nucleus.
V. Spindle Fibers dissembled
Cytokinesis
⮚Cytokinesis is the process of splitting the daughter cell apart.
⮚Whereas mitosis is the division of the nucleus, cytokinesis is
the splitting of the cytoplasm and allocation of the Golgi, body
and cytoplasm in to each new cell.
⮚It typically begins during telophase of mitosis.
 MEIOSIS
⮚Meiosis is a specialized type of cell division that occurs in
sexually reproducing organisms to produce gametes (sperm &
ovum).
⮚It reduces the chromosome number by half creating haploid
cells from a diploid parent cell, ensuring genetic diversity in
offspring.
⮚It involves two consecutive division.
a)Meiosis I
b)Meiosis II
Features: -It occurs in the gonads: testes in males
(spermatogenesis) & ovaries in females (Oogenesis).
It is a reduction division (chromosomes halved from 46 to 23).
It includes two successive division (meiosis I & Meiosis II).
Meiosis determines inheritance & ensures propagation of
species
Meiosis I: -
⮚Meiosis I also called the reductional division is the first of the
two division in meiosis.
⮚It reduces the chromosome number by half, resulting in two
haploid cells (n) from one diploid parent cell (2n).
 MEIOSIS II
❖Meiosis II is the second stage of meiosis.
❖It is also called an-equational division because the number of
chromosomes remains the same in each cell throughout the
process.
Stages of meiosis II: -
[Link] II
❖Chromosomes in each haploid cell condense and become
visible.
❖The y envelope (if reformed during telophase I) break down.
Spindle fibres begin to form centrosomes, which move to
opposite poles of the cell

[Link] II
❖Chromosomes align individually along the metaphase
plate (equatorial plane).
❖Each chromosome consists of two sister chromatids
attached at the centromere.
❖Spindle fibres from opposite poles attach to the
kinetochores of the sister chromatids.
.Anaphase II
❖The centromere split, and sister chromatids are pulled
apart by the shortening of spindle fibres.
❖Each separated chromatids are now considered an
individual chromosome.
❖The centrosome moves to opposite poles of the cell.
Telophase II
❖Chromosomes arrive at the poles and begin to decondense
into chromatin.
❖Meiosis ends with telophase II, in which the two groups of
chromosomes once again get enclosed by a nuclear envelope,
cytokinesis follows resulting in the formation of tetrad of
cells, i.e. four haploid daughter cells. Cytokinesis separates
the cells.
 LAW OF INHERITANCE: -
Meaning of inheritance: - Inheritance is the process by
which genetic information is passed from parents to their
information is passed from parents to their information is
passed from parents to the offspring. This genetic information is
carried in genes, which are part of DNA, and determines traits
such as physical appearance, behaviour and susceptibility to
certain diseases.
The law of inheritance was delivered by Gregor Johann
Mandel, a 19 the century Monk, conducting hybridization
experiments in grader, peas. From these experiments, he
detected two generalization is which became known as Mendel’s
law of hereditary or mendelian inheritance.
Which are-
a)Law of dominance
b)Law of segregation
c)Law of independent assortment
a) Law of Dominance
⮚This is also called Mendel’s 1st law of inheritance.
⮚Each trait is controlled by forms of a gene, called alleles (one
from each parent).
⮚Out of these two alleles, one is dominant (stranger) and
the other is recessive weaker.
⮚The dominant alleles always express itself, even if the
recessive allele is present.
)Mendel’s 2nd Law
C

❖Also known as law of segregation, which states

❖Genes exist is pair, and each parent has two copies of each
gene.
❖When parents form reproductive cells (like sperm or eggs),
the two copies of each gene separate (segregate) so that each
cell gets only one gene from the pair.
❖This ensures the offspring gets one gene from the father &
one from the mother for every trait.
d)Mendel’s 3rd law of inheritance.
❖ It is also known as law of independent assortment it says: -
❖Different traits are inherited independently of each other.
❖This means that one trait (like eye colour) does not affect how
another trait (like height) is inherited.
❖The genes for different traits are passed on in random
combinations.
 Example: -
- Let’s consider two traits in humans.
- Hair type: Curly (C) is dominant, and straight (c) is
recessive.
- Eye colour: Brown (B) is dominant, and blue is (b) is
recessive.
If both parents have genes for these traits (CcBb), the traits are
passed independently.
 MUTATION
Introduction: Mutation is a change in the DNA sequence,
which is the genetic material that makes up our genes. The
changes can occur naturally or due to environmental factors.
Mutation is the raw material for evolution and genetic diversity.
They can happen in any cell, but they only affect an organism if
they occur in the germ cells (sperm or eggs), which are passed to
offspring.
Definition: A mutation is a permanent alteration in the DNA sequence
that makes up a gene. This change can happen in a single DNA building
block (nucleotide) or in larger segments of chromosomes
Causes of Mutation
Spontaneous Mutation: Occur naturally during DNA
replication due to errors in copying the genetic material.
Induced Mutation: Caused by external factors such as
radiation, chemicals (carcinogens), or viruses.
Environmental factors: Exposure to UV light, smoking, or
pollution can increase mutation rates.
Types of Mutation
● Gene Mutation
● Chromosome Mutation
[Link] Mutation.

Point mutation. Frameshift mutation

● Silent. Insertion
● Nonsense mutation. Deletion
● Missense
Point mutation
A point mutation or substitution is a genetic mutation
where a single nucleotide base is changed, inserted
deleted from a sequence of DNA or RNA.
Silent mutations
● Silent mutations are mutations in DNA that do not
have an observable effect on the organism's phenotype.
They are a specific type of neutral mutation.
Missense mutation:
● A missense mutation is due to point mutation in the codon,
which then codes for another amino acid.
● It can lead to alteration or loss of function in proteins.
Nonsense mutation
● A nonsense mutation is also a change in one DNA base pair.
Frameshift mutation: Base pair alteration causes an abnormal
reading frame which ultimately results in an abnormal protein
formation.
A specific reading frame has a start codon and also a stop
Insertion: It is the insertion or addition of a base into the gene
sequence.
It is often known as addition mutation.
Deletion: When a base or some bases are deleted from the
gene sequence it is known as deletion.
Loss of part of a chromosome takes place during deletion
Chromosome Mutation
● Deletion
● Duplication
● Inversion
● Translocation
Chromosome mutation
A chromosome mutation is an unpredictable change that occurs
in a chromosome.
These changes are most often brought on by problems that occur
during meiosis (division process of gametes) or by mutagens
(chemicals, radiation, etc.).
Deletion A small-scale type of deletion mutation is one in which
one or more nucleotides are lost or deleted from the chromosome
Duplication
A type of mutation in which a portion of a genetic material or a
chromosome is duplicated or replicated, resulting in multiple
copies of that region.
Inversion: When some gene sequences are inverted and inserted
back into the original sequence it is known as inversion.
It reverses the direction of part of a chromosome.
Translocation: When the chromosome piece breaks off and
reattaches to another non-homologous chromosome it is
known as [Link] is a part of one attach to another
chromosome.
Effects of Mutations:
Beneficial Mutations: These are rare but can result in a trait that
is advantageous for survival and reproduction, contributing to
evolution.
Neutral Mutations: These mutations don’t have any noticeable
effect on the organism’s fitness or survival
Harmful Mutations: These can lead to diseases or
malfunctions in cells. For example, mutations in the BRCA1
gene increase the risk of breast cancer, and mutations in the
haemoglobin gene cause sickle cell anemia.
Examples of Mutations:
Cystic Fibrosis: Caused by a mutation in the CFTR gene,
leading to thick mucus in the lungs and digestive tract.
Sickle Cell Anemia: A point mutation in the haemoglobin gene
causes red blood cells to become sickle-shaped, leading to
anemia and other complications.
Lactose Intolerance: A mutation that affects the gene
responsible for lactase, the enzyme needed to digest lactose in
milk.
Mutation and Evolution: Mutations are essential for genetic
variation, which is the basis for natural selection.
. Over time, beneficial mutations may become more common in a
population, leading to evolutionary changes.

THE HUMAN GENOME PROJECT

The Human Genome Project (HGP) was a groundbreaking
international research initiative aimed at mapping and
understanding all the genes of the human species. Completed
in 2003, it provided a comprehensive blueprint of human
DNA, revolutionizing the fields of genetics and medicine.
Objectives of the Human Genome Project:
⮚Mapping the Human Genome: The primary goal was to
determine the sequence of the 3 billion DNA base pairs that
make up human DNA.
⮚Identifying Genes: Identifying and mapping all of the
approximately 20,000–25,000 human genes.
⮚Storing Information: Storing this information in databases to
make it accessible for further scientific research.
⮚Improving Data Analysis: Developing tools for data analysis
to interpret the vast amount of genetic information.
⮚Addressing Ethical, Legal, and Social Issues (ELSI):
Considering the implications of genomic research on society,
including privacy concerns and the potential for genetic
discrimination.
⮚Complete Genome Sequencing: Successfully sequenced the
entire human genome, providing a reference for human
genetic variation.
Advancements in Technology: Led to the development of faster
and more cost-effective DNA sequencing technologies
⮚Medical Breakthroughs: Enhanced understanding of genetic
disorders, leading to improved diagnostics and personalized
medicine approaches.
⮚Ethical Frameworks: Established guidelines to navigate the
ethical and social implications of genetic information.
Application and benefits
Molecular Medicine
● Improved diagnosis of disease
● Earlier detection of genetic predispositions to disease
● Rational drug design
● Gene therapy and control systems for drugs
● Pharmacogenomics, custom drugs
Energy sources and Environmental
Applications
● Use microbial genomics
● Research to create new energy sources
● Research to develop environmental
monitoring techniques to detect pollutants
● Research for safe efficient environmental
remediation
Research for carbon sequestration
Risk Assessment
● Assess health damage and risks caused by radiation exposure,
including low dose exроsure
● Assess health damage and risks caused by exposure to
mutagenic chemicals and cancer-causing
Reduce the likelihood of heritable mutations
Bioarcheology, Anthropology, Evolution and Human
Migration
● Study evolution through germ line mutations in lineages
● Study migration of different population groups based on
female genetic inheritance.
● State mutations on the Y chromosomes to trace lineage and
migration of males
● Compare breakpoints in the evaluation of mutations with ages
of populations and historical events
DNA Forensics (Identification)
● Identify potential suspects whose DNA may march evidence left
at crime scenes
● Exonerate persons wrongly accused of crimes
● Identify crime and catastrophe victims.
● Establish paternity and other family relationships
● Identify endangered and protected species as an aid to wildlife
officials
● Detect bacterias and other organisms that may pollute air, water,
soil and food
Agriculture, Livestock Breading and Bioprocessing
● Discase, insect and drought resistant crops
● Healthier more productive, disease resistant farm animals
● More nutritious products
● Biopesticides
● Edible vaccines incorporated into food products
● New environmental clean-up uses for plants like tobacco.
● Process in HGP
In summary, the Human Genome Project has been
instrumental in advancing our understanding of human
genetics, paving the way for innovations in medical science,
and prompting important ethical discussions in the realm of
genetic information.
 THE GENOMIC ERA
The Genomic Era refers to the period in science where
our understanding of genomics—the study of genomes
(complete sets of genes or genetic material in an
organism)—has revolutionized medicine, biology, and
genetics. It began after the completion of the Human
Genome Project in 2003 and continues today, as genomic
research continues to grow and evolve.
Key Features of the Genomic Era:
Personalized Medicine: Genomic research has made it
possible to tailor medical treatments based on an
individual’s genetic makeup. This leads to more
effective treatments, fewer side effects, and a better
understanding of disease susceptibility
Gene Editing:
Technologies like CRISPR-Cas9 have allowed scientists to
edit genes, opening possibilities for treating genetic diseases
and even potentially correcting mutations in embryos
Understanding Diseases:The genomic era has led to a
better understanding of the genetic causes of diseases like
cancer, Alzheimer’s, diabetes, and rare genetic disorders. It
has helped identify genetic mutations that cause these
conditions, leading to improved diagnostics and therapies.
Genomic Databases:
Huge databases like the GenBank store vast amounts of
genetic data, enabling researchers worldwide to access
information on gene sequences, mutations, and their roles
in health and disease.
Impact on health care
● Early diagnosis and prevention
● Cancer genomics
Genomic data integration
Future Prospectus
The genomic era's future prospectus points toward truly
personalized, predictive, and preventative medicine, shifting
healthcare from reactive treatment to proactive health
management using Al, spatial omics, and population-scale data
to understand disease at the molecular level, enabling routine
genomic testing, targeted therapies, and even genetic
engineering for broader societal health benefits, though ethical
frameworks and equitable access remain crucial challenges.
Research findings: -
Nurses have the skills to develop and lead research that
addresses the relationship between genetic factors and health.
Increasing genetic knowledge and research capacity through
interdisciplinary cooperation as well as the development of
research resources, will accelerate the rate at which nurses
contribute to the knowledge about genetics and health. There are
currently different fields in which knowledge can be expanded
by research developed from the nursing field. Here, we present
an emerging field of research in which it is hypothesized that
genetics may affect bone metabolism.
CHICAGO, Jan 8 (Reuters) – Scientists have characterized the
role of thousands of mutations in the BRCA2 cancer gene,
findings that may help reassure worried patients about their
cancer risk or guide doctors toward better, more targeted
treatments.
Harmful mutations in BRCA2 – a gene responsible for repairing
damaged DNA – significantly increase the risk of breast,
ovarian, prostate and pancreatic cancers
SUMMERY:
The topic is summarized by the definition, types of cell
division, Law of inheritance, mutation, human genome project,
genomic era.
CONCLUSION. The discussed topics provide a comprehensive
understanding of cellular division, including mitosis and meiosis, which
are essential for growth, repair, and reproduction. The laws of inheritance
and genetic mutations demonstrate how traits are passed on and altered,
contributing to genetic diversity. The Human Genome Project and the
genomic era mark significant milestones in understanding the human
genome, paving the way for advancements in genetics and personalized
medicine.
It underscores the importance of genetics in advancing medical
research, diagnosis, and treatment, ultimately enhancing nursing
practice and patient care
BIBLIOGRAPHY
[Link] Kaur Brar, “Text book of advance practice”,1st
edition,The health sciences publisher, 2015, Page no 205 to
242.
[Link] Albert’s , “Milecular biology of the cell”, 6th edition,
Garland science publishers,2014, Page no 945-960.
[Link] Soni, “Textbook of Advance Nursing Practice”,
first edition, Jaypee Brothers medical publishers (p)ltd,2013,
page no 245 – 276.
[Link] P Basheer,S.Y Khan Emmess publication
Textbook of advance nursing practice page no137-149
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