GOVT.

COLLEGE OF NURSING
JODHPUR

PRESENTATION ON
GENDER SENSITIVITY ISSUES
& WOMAN EMPOWERMENT
SUBJECT- Advance Nursing Practices

SUBMITTED TO - SUBMITTED BY-

Mrs. MANITA TAMBI PUJA BHARTI
HOD of Pediatrics M.sc (N) Prev. Year
GCON, Jodhpur GCON, Jodhpur

DATE OF PRESENTATION:
INTRODUCTION
Genetics is a field of biology that studies how traits are passed from parents to their
offspring. The passing of traits from parents to offspring is known as heredity,
therefore, genetics is the study of heredity. This introduction to genetics takes you
through the basic components of genetics such as DNA, genes, chromosomes and
genetic inheritance.Genetics is built around molecules called DNA. DNA molecules
hold all the genetic information for an organism. It provides cells with the information
they need to perform tasks that allow an organism to grow, survive and reproduce.A
gene is one particular section of a DNA molecule that tells a cell to perform one
specific task.Heredity is what makes children look like their parents.During
reproduction, DNA is replicated and passed from a parent to their offspring. This
inheritance of genetic material by offspring influences the appearance and behavior of
the offspring.The environment that an organism lives in can also influence how genes
are expressed.

IMPORTANCE STUDYING GENETCS

 In the future, doctors and scientists hope to use our genetic information to diagnose,
treat, prevent and cure many illnesses.
 Genes are instructions, which tell your body how to make all the proteins it needs to
survive and grow. By identifying each of these proteins, scientists hope to better
understand how your body works, and what is happening when it doesn’t work
properly. They hope this knowledge will eventually lead to more effective medicines
and treatments.
 From the use of DNA in court cases to the discovery of new therapies for genetic
diseases, a thorough understanding of the human genome can have important medical,
social and legal impacts.
 Diseases and Treatments
 Human History
 Forensics and Legal Implications
 Genetic Enhancement
GENES
Introduction: In 1865, Gregor Mendal was the first to describe the elements of heredity i.e.
Genes. His observation and analysis of the observable features of Pea led him to conclude
that specific traits were passed on unchanged from a parent plant to the next generation.

Definition: Gene is a Greek word which means ‘to become’ or ‘to grow into’. Genes, which
are made up of DNA, acts as RNA instructor to make molecules called Proteins.
In humans, genes vary in size from a few hundred DNA bases to more than 2 million
bases. Most of the genes are same in all people, but a small number of genes are slightly
different between people.

CHARACTRISTICS:
 Genes are the true carriers of heredity, responsible for the development and structure
of human body. They are the physical substances passed on from parent to child. The
parent’s genes, in turn, have come from their parents, grandparents, and other more distant
ancestors.
 Some of the genes are dominant- they produce the trait in every generation. Other
genes are recessive- produce trait that skips several generations.
 Genes do not act alone; rather they are influenced by the genetic background of an
individual and by external and internal environment.
 Each human nucleated somatic cell has about 30,000 genes in the nucleus. Cells also
have some non-nuclear genes located within the mitochondria within the cytoplasm.
 Alternate forms of a gene are termed as alleles.
 For each gene, an individual receives an allele from each parent, and thus has two
alleles for each gene on the Autosomes and also on the X chromosomes in the females.

 Males have only one X chromosome and therefore have only one allele for all genes
on the X chromosome. They are hemizygous for all X linked genes.
 At any autosomal locus, or gene site, an individual can have two identical alleles
(homozygous) for that locus or can have different alleles (heterozygous) at a particular locus
e.g. for eye color.
 Genotype refers to the constitution of genetic material of an individual; for practical
purpose it is commonly used to address a specific pair e.g. the gene of sickle cell anemia,
gene for cystic fibrosis etc.
CHROMOSOME
Introduction & Structure
In the nucleus of each cell, the DNA molecule is packed into thread like structures called
Chromosomes. Each chromosome is made up of DNA tightly coiled many times around
protein called histones that support its structure. Chromosomes are not visible in the cell’s
nucleus not even under a microscope when the cell is not dividing. However, the DNA that
makes up chromosomes become more tightly packed during cell division and is then visible
under a microscope. Most of what researchers know about chromosome was learned by
observing chromosomes during cell division. Each chromosome has constriction point called
Centromere, which divides the chromosome into two sections or “arms”. The short arm of
chromosome is labeled the “p arm”. The long arm of chromosome is labeled the “q arm”.
The location of centromere on each chromosome gives the chromosome its characteristic
shape, and can be used to help describe the location of the specific genes.

In humans, each cell normally contains 23 pairs of chromosomes, for a total of

46. Twenty-two of these pairs called Autosomes look the same in both males and females.
The 23rd pair, the Sex chromosomes, differs between males and females. Females have two
copies of the X chromosome, while males have one X and one Y chromosome.
DNA: Deoxyribonucleic Acid
DNA is largely confined to the nucleus and is the main component of the chromosomes. It is
also called nuclear DNA.

Quantity: The DNA content is fairly constant in all the cells of a given species. Just before
cell division, the amount of DNA is doubled. The gametes have half the amount of DNA as
they contain half the number of chromosomes.

Chemical Structure: Chemical structure of DNA was explained by P.A. Levene. DNA is the
largest macromolecule in the organisms. It is long double chain of deoxyribonucleotide
units. The two deoxyribonucleotide chains are twisted around a common axis to form a right-
handed double helix (spiral) that encloses a cylindrical space in it. Each deoxyribonucleotide
unit consists of three different molecules Phosphate, a 5-Carbon deoxyribose sugar and a
Nitrogenous base. The nitrogenous base may be a 9-membered double ringed purine i.e.
Adenine (A) or Guanine (G) or a 6-membered single ringed pyrimidine i.e. Thymine (T) or
Cytosine (C). The nitrogenous base molecules are joined to sugar molecule at 1-Carbon
position by glycoside bonds and project to space enclosed in the helix at about 90 degrees to
the long axis of the helix. The two deoxyribonucleotide chains are held together by
hydrogen bonds. Adenine of one chain is always joined to thymine of other chain by two
hydrogen bonds. Cytosine of one chain is always linked to Guanine of the other chain by
three hydrogensbonds.
Watson and Crick Model:
J.D Watson, an American biologist &F.H.C Crick, an English Chemist, in 1953 suggested
a model of DNA molecule to explain its structure. This model got them the 1962 Nobel
Prize. Acc. to Watson & Crick, the DNA molecule consists of two long, parallel chains
(strands) which are joined together by short crossbars at regular intervals. The two chains are
spirally coiled around a common axis in a regular manner to form a double helix. The
double helix is of constant diameter. The bases face the interior of the double helix where as
the sugar and phosphate components form backbones on the outside. The helix is generally
right- handed, that is, the turns run clockwise looking along the helical axis.

Some Important Points Regarding DNA:

 Human DNA is double stranded helical structure comprised of four different bases, the
sequence of which codes for the assembly of amino acids to make a protein e.g. an enzyme.
These proteins are important for following reasons:
a) For body characteristics such as eye color.
b) For biochemical processes such as the gene for the enzyme that digests phenylalanine.
c) For body structure such as chromosome collagen gene important for bone formation.
d) For cellular functioning such as genes associated with cell cycle.

 The four DNA bases are Adenine, Guanine, Cytosine, Thymine or AGTC. It is these
four compounds can be arranged in countless sequences and it is the sequence in whichare
arranged which determines who and what we are.
 A change, or mutation, in the coding sequence, such as duplicated or deleted region or
even a change in only one base, can alter the production or functioning of the gene or gene
product, thus affecting cellular processes, growth & development.
 DNA analysis can be done on almost any body tissue (blood, muscle, skin) using
molecular techniques (not visible under microscope) for mutation analysis of a specific gene
with a known sequence for DNA linkage of genetic markers associated with a particular
gene.
 HUMAN GENOME PROJECT

A genome is an organism’s complete set of DNAs including all of its genes. Each
genome contains all of the information needed to build and maintain that organism. In
humans, a copy of the entire genome more than 3 billion DNA base pairs is contained in all
cells that have a nucleus.

INTRODUCTION
The human genome project was an international research effort to determine the
sequence of the human genome and identify the genes that it contains.
The project was coordinated by the national institutes of health and the US department
of energy. Additional contributors included universities across the United States and
international partners in the United Kingdom, France, Germany, Japan, China and India.
The human genome project formally began in 1990 and was completed in 2003, 2
years ahead of its original schedule.
The work of the human genome project has allowed researchers to begin to understand
the blueprint for building a person.
As researcher learn about more the functions of genes and proteins, this knowledge
will have a major impact in the fields of medicine, biotechnology and the life sciences.
The Human Genome Project, one of the most significant research endeavors of the twentieth
century deserves much of the credit for the discovery of these new applications of genetic
information.
Especially research from the HGP is providing a new and better understanding of the genetic
contribution to disease, the development of targeted drug therapy and the development of
genetic tests that identify those who may have or are at risk for genetic disease.

GOALS OF HUMAN GENOME PROJECT:

 To identify all the genes in human DNA.
 To develop a genetic linkage map of human genome.
 To obtain a physical map of human genome.
 To develop technology for the management of human genome
information.
 To know the function of genes.
 Determine the sequences of the 3 billion chemical base pairs that make up
human DNA.
 Store this information in public databases.
 Develop tools for data analysis.
 Transfer related technologies to the private sectors
.
ACCOMPLISHMENTS OF HUMAN GENOME PROJECT:
In April 2003, researchers announced that the human genome project had completed a
high-quality sequence of essentially the entire human genome. This sequence closed the gaps
from a working draft of the genome, which has published in 2001. it also identified the
locations of many human genes and provided information about their structure and
organization. The project made the sequence of the human genome and tools to analyze the
data freely available via the internet.
In addition to the human genome, the Human Genome Project sequenced the genomes
of several other organisms, including brewers’ yeast, the roundworm, and the fly. In 2002,
researchers announced that they had also completed a working draft of the mouse genome.
By studying the similarities and differences between human genes and those of other
organisms, researchers can discover the functions of particular genes and identify which
genes are critical for life.
MILESTONES:
1986- The birth of the HGP.
1990- Project initiated as joint effort of US Department of Energy and the National
Institute of Health.
1994- Genetic Privacy Act: to regulate collection, analysis, storage and use of DNA
samples and genetic information is proposed.
1996- Welcome Trust joins the project.
1998- Celera Genpmics (a private company founded by Craig Venter) formed to
sequence much of the human genome in 3 yrs.
1999- Completion of the sequence of Chromosome 22 the first human chromosome to
be sequenced.
2000- Completion of the working draft of the entire human genome.
2001- Analysis of the working draft are published.
2003- HGP sequencing is completed and Project is declared finished two years ahead
of schedule.
ETHICAL, LEGAL AND SOCIAL IMPLICATIONS OF HUMAN
GENOME PROJECT:
The ethical, legal and social implications (ELSI) program was founded in 1990 as an
integral part of the Human Genome Project.
The mission of the ELSI program was to identify and address issues raised by
genomic research that would affect individuals, families, and society.
A percentage of the Human Genome Project budget at the National Institute of Health
and the US Department of Energy was devoted to ELSI research.
The ELSI program focused on the possible consequences of genomic
research in four main areas:
 Fairness in the use of genetic information’s.
 Privacy and confidentiality of genetic information.
 Psychological impact, stigmatization and discrimination.
 Reproductive issues.
 Clinical issues.
 Uncertainties associated with genes test for susceptibilities and complex conditions.
 Fairness in access to advanced genome technologies.
 Conceptual and philosophical implications.
 Health and environmental issues.
 Commercialization of products.
 Education, Standards, and Quality control.
 Patent issues.
OUTCOMES OF HUMAN GENOME PROJECT:
Introduction:
We now know that our genome contains about 3.2 billion A, C, G and T bases- the
molecules that help make up the DNA code. An average-sized gene has about 3000 of these
bases, though some genes are smaller and some are much bigger. The biggest known human
gene, dystrophin, is made up of about 2.4 million bases. The human Genome Project also
gave us some detailed information about chromosomes. It turns out that chromosome 1
contains the most genes- 3168, while the Y chromosome has the fewest about 344.

Now we can imagine that these small genes, chromosomes and DNA are how much helpful
for human life in all aspects of our health.

Fig: Outcomes of HGP

FUTURE PRESPECTIVE OF GENOMIC RESEARCH:
Discovering the sequence of the human genome was only the first step in
understanding how the instructions coded in DNA lead to a functioning human being. The
next stage of genomic research will begin to drive meaningful knowledge from the DNA
sequence research studies that build on the work of the human genome project are under
way worldwide.

The objectives of continued genomic research include the following:

 Determine the function of genes and the elements that regulate genes throughout the
genome.
 Find variations in the DNA sequence among people and determine their significance.
These variations may one day provide information about person’s disease risk and
response to certain medications.
 Discover the 3-dimensional structures of proteins and identify their functions.
 Explore how DNA and proteins interact with one another and with the environment to
create complex living systems.
 Develop and apply genome-based strategies for the early detections, diagnosis and
treatment of disease.
 Sequence the genomes of other organisms, such as the rat, cow and chimpanzee, in
order to compare similar genes between species.
 Develop new technologies to study genes and DNA on a large scale and
store genomic data efficiently.
 Continue to explore the ethical, legal and social issues raised by genomic research.

Finally, human genome project research will help solve one of the greatest mysteries of
life how does one fertilized egg “know” to give rise to so many different specialized cells,
such as those making up muscles, brain, heart, eyes skin, blood and so on? For a human
being or any organism to develop normally, a specific gene or set of genes must be switched
on the right place in the body at exactly the right movement in development. Information
generated by the human genome project will shed light on how this intimate dance of gene
activity is choreographed into the wide variety of organs and tissues that make up a human
being.
 SUMMARY
• Genetics is the study of biological traits. These traits are coded for in genes, which
are parts of chromosomes.
• An Allele is a variant of a gene. These can be dominant or recessive, and these are the
basis of inherited traits, both structural and behavioral.
• Chromosomes exist as homologous pairs.

CONCLUSION
As we all know that human body is made from a small atom i.e., Body cell which further
group to form tissues and so on ending with an beautiful structure that is called as human
body.

Body Cell Tissues (Group of cells)  Body Organs  Body Systems  Body

In same way the small atom i.e., body cell which contains very important components which
are actually main unit of an individual life which specify the person’s
characteristics(Physical appearance, Heredity, Any genetic diseases etc.)

Group of genes  Forms DNA  Forms Chromosomes  Nucleus  Body Cell

These gene, chromosomes and DNA are very useful to identify any deformity in the fetus.
 BIBLIOGRAPHY

 Sharma Kumar Suresh “Human Genetics in Nursing” Ed 1st, Published by Jaypee

Brothers, pp-1-4, 69-78.

 Dhami P.S, Shrivastava H.N. “Textbook of Biology” Ed 4th, Published by Pradeep

Publications, pp- 36-63.

 Howkins & Bourne “Shaws Textbook of Gynecology” Ed 13 th, Published by Elsevier,

pp- 93,71,265-268.

Net Source:
 https://www.medicalnewstoday.com/articles/120574.php
 https://www.genome.gov/12011238/an-overview-of-the-human-genome-
project/
 http://whoami.sciencemuseum.org.uk/whoami/findoutmore/yourgenes/ho
wdogenesaffectyourhealth/whyisstudyinggeneticsimportant
 https://sciencing.com/importance-studying-human-dna-genetics-
2334.html