INTRODUCTION TO

GENETICS
PROF HEMALATHA
HOD, PEDIATRIC NURSING
AECS MAARUTI COLLEGE OF
NURSING
TERMINOLOGIES
 GENETICS: concerned with study of
chromosomes and genes
 CHROMOSOMES: are microscopic structures
composed of DNA and protein that contain the
genes
 GENES: it is the functional unit of heredity. It
is the segment of DNA molecule coded for the
synthesis of a single polypeptide and contains
the heredity information needed for
development and function.
Basics of DNA
 All genetic material contained in a single
germ cell (sperm and ovum) is known as
human genome, that contains all the
information of life. Therefore each body cell
or somatic cell contains 2 sets of human
genome. The human genome contains
about 3 billion base pairs which is roughly
the number of people in the earth.
 DNA
 DNA or deoxyribonucleic acid is a
large molecule structured from
chains of repeating units of the
sugar deoxyribose and phosphate
linked to four different bases
abbreviated A, T, G, and C. A & G
are purines and C & T are
pyrimidines.
 The DNA is responsible for storing,
duplicating and processing of
heredity information.
 The two sides of the ladder are composed of
the sugar and phosphate molecule held
together by strong phospho di ester bonds.
Projecting from each side of the ladder are
the nitrogenous bases. The length of the DNA
is expressed in base pairs. 1000 base pairs
makes up 1 Kilo base.
 GENE STRUCTURE
 Genes are segments of DNA stretches and are transcribed
into RNA and later translated into proteins. The genes are
composed of exons( coding regions) and introns (non
coding regions.
 one strand of structural gene DNA forms a template for the
synthesis of a form of RNA known as messenger RNA. This
process is known as transcription. A triplet of bases called
codon codes for synthesis of a particular amino acid.
FUNCTIONS OF THE DNA
 DNA as the genetic code: to serve as the basis
of the genetic inheritance, DNA must be able to
direct the synthesis of all the body’s proteins. The
proteins are composed of polypeptides which are
in turn composed of amino acid sequences.
These amino acid sequences must be specified
by the DNA molecule. It is done through triplets of
the bases called as codons. Of the 64 possible
codons, 3 signal the end of the gene and are
known as termination codons.
 Genetic code is universal. All living organisms use
precisely the same DNA codes to specify the
proteins.
 Replication:
If it is to serve as the basic genetic material, it has to
replicate itself. DNA replication consists of the
breaking of the weak hydrogen bonds between
the bases, leaving a single strand with each base
unpaired. Consistent pairing of adenine with
thymine and of guanine with cytosine is the key to
accurate replication. AT TG CT bonds with TA AC
GA.
 Mutation: it is the inherited alteration of genetic
material.
 Transcription: it is the process by which RNA is
synthesized from a DNA template. ( instead of
deoxyribose, there is ribose and uracil instead of
thymine is one of the four bases)
 Gene Splicing: after transcription, the mRNA
reflects the base sequence of DNA exactly. Before
this RNA leaves the nucleus, many of the RNA
sequences are removed by the nuclear enzymes
and the remaining sequences are spliced to form
the functional mRNA that will migrate to the
cytoplasm.
 Translation: it is the process by which
RNA directs the synthesis of a polypeptide.
However mRNA cannot code the amino
acids directly. Therefore, tRNA is used for
specifying the sequence of amino acids.
HUMAN CHROMOSOMES
 In humans, the normal somatic cells contain
46 chromosomes (diploid) of which 44 are
autosomes and 2 are sex chromosomes.
 Females have XX
 Males have XY
 Of each pair, one is derived from the father
and the other from the mother
 The gametes have a haploid set of 23(n)
chromosomes. The sex chromosome in the
female is always an X, it can be X or Y in
Males.
 The gender of the offspring depends upon
whether the X or Y bearing sperm fertilizes
the ovum.
 CELL CYCLE
The cell cycle is an ordered set of
events, culminating in cell
growth and division into two
daughter cells. Non-dividing cells
not considered to be in the cell
cycle. The stages, pictured to
the right are G1-S-G2-M. The G1
stage stands for "GAP 1". The S
stage stands for "Synthesis".
This is the stage when DNA
replication occurs. The G2 stage
stands for "GAP 2". The M stage
stands for "mitosis", and is when
nuclear (chromosomes separate)
and cytoplasmic (cytokinesis)
division occur.
MITOSIS
When a eukaryotic cell divides into two,
each daughter or progeny cell must
receive
 a complete set of genes (for diploid
cells, this means 2 complete genomes,
2n)
 a pair of centrioles (in animal cells)
 some mitochondria
 some ribosomes, a portion of the
endoplasmic reticulum, and perhaps other
organelles
 There are so many mitochondria and
ribosomes in the cell that each daughter cell
is usually assured of getting some. But
ensuring that each daughter cell gets two (if
diploid) of every gene in the cell requires the
greatest precision.
 Mitosis is nuclear division plus cytokinesis,
and produces two identical daughter cells
during prophase, prometaphase,
metaphase, anaphase, and telophase.
Interphase is often included in discussions
of mitosis, but interphase is technically not
part of mitosis, but rather encompasses
stages G1, S, and G2 of the cell cycle.
 Stages of Interphase
 G1 phase: The period prior to the synthesis
of DNA. In this phase, the cell increases in
mass in preparation for cell division. Note
that the G in G1 represents gap and the 1
represents first, so the G1 phase is the first
gap phase.
 S phase: The period during which DNA is
synthesized. In most cells, there is a narrow
window of time during which DNA is
synthesized. Note that the S represents
synthesis.
 G2 phase: The period after DNA synthesis
has occurred but prior to the start of
prophase. The cell synthesizes proteins
and continues to increase in size. Note
that the G in G2 represents gap and the 2
represents second, so the G2 phase is the
second gap phase.
 INTERPHASE
 The cell is engaged in metabolic
activity and performing its
preparation for mitosis.
Chromosomes are not clearly
discerned in the nucleus, although a
dark spot called the nucleolus may
be visible. The cell may contain a
pair of centrioles.
 PROPHASE
Chromatin in the nucleus
begins to condense and
becomes visible in the light
microscope as
chromosomes. The
nucleolus disappears.
Centrioles begin moving to
opposite ends of the cell
and fibers extend from the
centromeres. Some fibers
cross the cell to form the
mitotic spindle.
CENTROMERE

Microtubules

Kinetochore

SISTER
CHROMATIDS
PROMETAPHASE
 The nuclear membrane
dissolves, marking the
beginning of
prometaphase. Proteins
attach to the
centromeres creating
the kinetochores.
Microtubules attach at
the kinetochores and
the chromosomes
begin moving.
 METAPHASE
Spindle fibers align the
chromosomes along the
middle of the cell nucleus.
This line is referred to as
the metaphase plate. This
organization helps to
ensure that in the next
phase, when the
chromosomes are
separated, each new
nucleus will receive one
copy of each
chromosome.
ANAPHASE
The paired chromosomes
separate at the
kinetochores and move
to opposite sides of the
cell. Motion results
from a combination of
kinetochore movement
along the spindle
microtubules and
through the physical
interaction of polar
microtubules
 TELOPHASE
 Chromatids arrive at
opposite poles of cell, and
new membranes form
around the daughter nuclei.
The chromosomes disperse
and are no longer visible
under the light microscope.
The spindle fibers disperse,
and cytokinesis or the
partitioning of the cell may
also begin during this stage.
 CYTOKINESIS
 In animal cells, cytokinesis
results when a fiber ring
composed of a protein called
actin around the center of the
cell contracts pinching the cell
into two daughter cells, each
with one nucleus. 2
DAUGHTER cells having the
same chromosomal and
genetic complement.
MEIOSIS
 During gametogenesis, the diploid number
2n has to be reduced to the haploid state
n, so that following fertilization, the diploid
state is restored in the zygote.
 PROPHASE I
 LEPTOTENE- chromosomes appear as single
strands
 ZYGOTENE- homologous chromosomes pair side
by side
 PACHYTENE- chromosomes shorten and thicken.
Pairing completes.
 DIPLOTENE:2 chromatids per chromosomes can be
seen. 4 chromatids form tetrad . Chiasmata forms
between chromatids, crossing over and exchange
of genetic material takes place.
 PROPHASE I – CONT’D
 Diakinesis : chromosomes are maximally
contracted, chiasma terminated. The nuclear
membrane dissolves.
METAPHASE I
 Chromosomes line up on the metaphasic
plate. Homologous chromosomes pair.
They are attached to spindle fibers. Note
that the exclusion of material has
occurred.
ANAPHASE I
 MOVE TO OPPOSITE POLES. One of the
each homologous chromosomal pair
moves to each pole.
TELOPHASE I
 Nuclear membrane reforms and cell furrow
forms. One duplicated cell membrane of
each pair is in each daughter cell at end.
 Cell division results in reduction of each
cell with haploid ( n ) number of
chromosomes.
METAPHASE II
 Chromosomes line up on the metaphase
plate.
ANAPHASE II
 Centromeres divide. The sister
chromatids now separate and are called
chromosomes. One of each goes to each
pole.
TELOPHASE II
 Nuclear membrane begins to reform. Cell
division occurs at the end of the stage.

 4 haploid gametes with one duplicated

membrane of each chromosomal pair in
each gamete.
 Thus, in male a primary spermatocyte
(2n) gives rise to two secondary
spermatocytes (n). Each of the latter
divides into two spermatids (n) by a
division similar to regular mitosis, called
Meiosis II.
 MALES
 Primary spermatocyte

Secondary spermatocyte Secondary spermatocyte

Spermatids (n) Spermatids (n) Spermatids (n) Spermatids (n)

FEMALES
Primary oocyte

Secondary oocyte
Secondary oocyte

After fertilization,
ovum undergoes
Becomes polar body and
meiosis II
is discarded

Single mature
Second daughter cell is disarded as 2nd polar body
Ovum (n)
PRINCIPLES IN IDENTIFYING
GENETIC DISORDERS

NEGATIVE FAMILY
HISTORY
ENVIRONMENTAL
FACTORS
GENETIC

HETEROGENEITY
PLEIOTROPY
EXPRESSIVITY
NOTEVERYTHING
FAMILIAL IS
GENETIC
ESTABLISHINGPATTERNS
OF INHERITANCE
REQUIRES EXTENSIVE
DATA
 APPLICATION OF GENETICS IN NURSING
 Genetic disorders occur among nearly 5 %
of live born infants.
 Nurses need to have knowledge about the
genetic conditions
 Nurses need to identify the genetic
disorders
 Nurses need to be aware of the occurrence
and the risk of recurrence of genetic
disorders within a family.
 Knowledge of genetics will help the nurses to
play a prominent role in providing
information on the various diagnostic tests to
be done in case of genetic disorders.
 Can educate the parents about the condition,
so as to reduce the guilt and anxiety and
help the child cope with difficulties.
 Nurses can participate in genetic
counseling of prospective parents and help
them to make rational decisions about
planning their family.