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Bishwajit Mazumder
Nursing Instructor
Dhaka Nursing College,
Dhaka
Subject: General Biology

GENETICS
1. Mendelian genetics
2. DNA and RNA
3. Gene Expression and regulation
4. Genetic Engineering (including providing knowledge on IVF)
The Mendelian Concept of a Gene

Gregor Mendel
In the 1860s, an Austrian monk named Gregor Mendel introduced
a new theory of inheritance based on his experimental work with pea
plants. Prior to Mendel, most people believed inheritance was due to a
blending of parental essences, much like how mixing blue and yellow
paint will produce a green color. Mendel instead believed that heredity
is the result of discrete units of inheritance, and every single unit
(or gene) was independent in its actions in an individuals genome.
According to this Mendelian concept, inheritance of a trait depends on

the passing-on of these units. For any given trait, an individual inherits
one gene from each parent so that the individual has a pairing of two
genes. We now understand the alternate forms of these units as alleles.
If the two alleles that form the pair for a trait are identical, then the
individual is said to be homozygous and if the two genes are different,
then the individual is heterozygous for the trait.
Based on his pea plant studies, Mendel proposed that traits are
always controlled by single genes. However, modern studies have
revealed that most traits in humans are controlled by multiple genes as
well as environmental influences and do not necessarily exhibit a simple
Mendelian pattern of inheritance.
Mendels Experimental Results
Mendel carried out breeding experiments in his monasterys garden
to test inheritance patterns. He selectively cross-bred common pea plants
(Pisum sativum) with selected traits over several generations.
After crossing two plants which differed in a single trait (tall stems
vs. short stems, round peas vs. wrinkled peas, purple flowers vs. white
flowers, etc), Mendel discovered that the next generation, the F1 (first
filial generation), was comprised entirely of individuals exhibiting only
one of the traits. However, when this generation was interbred, its
offspring, the F2 (second filial generation), showed a 3:1 ratio- three
individuals had the same trait as one parent and one individual had the
other parents trait.
Mendel then theorized that genes can be made up of three possible
pairings of heredity units, which he called factors: AA, Aa, and aa.
The big A represents the dominant factor and the little a represents the
recessive factor. In Mendels crosses, the starting plants were
homozygous AA or aa, the F1 generation were Aa, and the F2 generation
were AA, Aa, or aa. The interaction between these two determines the
physical trait that is visible to us.

Mendel's Laws are as follows:


1. The Law of Dominance
2. The Law of Segregation
3. The Law of Independent Assortment
Law of Dominance:
Mendels Law of Dominance predicts this interaction; it states that
when mating occurs between two organisms of different traits, each
offspring exhibits the trait of one parent only. If the dominant factor is
present in an individual, the dominant trait will result. The recessive
trait will only result if both factors are recessive.
Mendels Laws of Inheritance
Mendels observations and conclusions are summarized in the
following two principles, or laws.
Law of Segregation:
The Law of Segregation states that for any trait, each parents
pairing of genes (alleles) split and one gene passes from each parent to
an offspring. Which particular gene in a pair gets passed on is
completely up to chance.
Law of Independent Assortment:
The Law of Independent Assortment states that different pairs of
alleles are passed onto the offspring independently of each other.
Therefore, inheritance of genes at one location in a genome does not
influence the inheritance of genes at another location.
DNA and RNA
DNA (Deoxyribonucleic acid)
DNA, or deoxyribonucleic acid, is like a blueprint of biological
guidelines that a living organism must follow to exist and remain
functional. Nucleic acid that contains the genetic instructions used in
the development and functioning of all modern living organisms. DNA's

genes are expressed, or manifested, through the proteins that its


nucleotides produce with the help of RNA.
Structure
DNA and RNA are nucleic acid. Nucleic acids are long biological
macromolecules that consist of smaller molecules called nucleotides. In
DNA and RNA, these nucleotides contains four nucleobases sometimes called nitrogen bases or simply bases - two purine and
pyrimidine bases each.
DNA is found in the nucleus of a cell (nuclear) and in
mitochondria (mitochondrial DNA). It has two nucleotide strands which
consists of its phosphate group, five carbonsugar (the stable 2deoxyribose), and guanine.
Function
DNA provides living organisms with guideline - genetic
information in chromosomal DNA- that helps determine the nature of
organisms biology, how it will look and function. Based on information
passed down from former generations through reproduction. The slow,
steady changes found inDNA over time, known as mutations, which can
be destructive, neutral. Or beneficial to an organism, are at the core of
the theory of evolution.
Genes are found in small segments of long DNA strands, humans
have around 19,000 genes. The detail instructions found in genes
determined by how nucleobases in DNA are ordered are responsible for
both the big and small differences between different living organisms
and even among similar living organisms. The genetic information of
DNA is what makes plants, dogs look like dogs. And a human looks like
humans; it is also what prevents different species from producing
offspring. Genetic DNA is what causes some people have curly, black
hair, and what makes identical twins look so similar.

RNA (Ribonucleic Acid)


RNA is a nucleic acid consisting long chain of nucleotide units.
Like the DNA molecule, every nucleotide consists of a nitrogenous base,
sugar and phosphates. RNA (ribonucleic acid), helps carry out this
blueprint's guidelines.
Structure
RNA is created by a process known as transcribing. During
transcription, RNA a signal-stranded, linear molecule is formed. It is
complementary to DNA helping to carry out the tasks that DNA lists for
it to do. Like DNA, RNA is composed of its phosphate group, five
carbon sugar and four nitrogen containing nucleobases:adenine, uracil,
guanine, and cytosine.
Function
RNA has several functions that through all interconnected; vary
slightly depending on the type. There are three main types of RNA.
mRNA (Messenger RNA): The task of mRNA is to carry genetic
messages regarding protein sequence from the DNA genome to the
ribosome within the cell. Ribosome is an organelle found floating in the
cytoplasm or in the endoplasmic reticulum, this is where protein is
synthesized.
tRNA (Transfer RNA): Transfer RNA is found in a cell's cytoplasm and
closely related to mRNA as its helper. tRNA literally transfer

aminoacids, the core components of proteins to the mRNA in a


ribosome.
rRNA (Ribosomal RNA): Ribosomal RNA is found in a cell's
cytoplasm. In the ribosome, it takes mRNA and tRNA and translates the
information they provide. From this information, it learns whether it
should create, or synthesize a polypeptide or protein.
Difference between DNA and RNA
Sl
no
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3
4
5

DNA
It usually occurs inside
nucleus and some cell
organelles. (Mitochondria
and chloroplast in plants)
It is double stranded with
exception of some viruses.

RNA
Very little RNA occurs inside the
nucleus. Most of it found inside
the cytoplasm.

It is single stranded with


exception of some viruses
(Reovirus).
DNA contains over a million Depending on the type, RNA
nucleotides
contains 70-12,000 nucleotides.
The sugar portion of DNA is The sugar portion of RNA is
2-deoxyribose
ribose.
Purine and pyrimidine bases
There is no proportionality in
are in equal in number.
between numbers of purine and
pyrimidine bases.
The bases present in DNA are The bases present in RNA are
adenine (A), guanine (G),
adenine (A), guanine (G), Uracil
thymine (T), and cytosine (C). (U), and cytosine (C).
Hydrogen bonds are formed
Base pairing through hydrogen

Sl
no

between complementary
nitrogen bases of the opposite
stands (A-T, C-G).

bonds, occurs in the coiled parts.

DNA

RNA

DNA is spirally twisted to


produce a regular helix.

It replicates to for new DNA


molecules.
It occurs in the form of
chromatin or chromosomes.

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The function of DNA is


transfer genetic information
from one generation to next.
DNA transcribes genetic
information to RNA. Its
quantity is fixed for cell.
Renaturation after melting is
slow
DNA is only two types: intra
nuclear and extra nuclear
It is long lived

The strand may get folded at


places to produce a secondary
helix or pseudo helix.
It cannot normally replicate itself
.
It occurs in ribosomes or forms
association with ribosome.
The function of RNA is to direct
synthesis of protein in the body.
RNA translates the transcribed
message for forming
polypeptides. The quality of
RNA of a cell is variable.
It is quite fast.
Three different types of RNA:
m-RNA, t-RNA, and r- RNA .
Some RNA is very short lived
while other has somewhat longer
life.

Gene expression and regulation


Gene expression: Gene expression is the process by which the genetic
code - the nucleotide sequence - of a gene is used to direct protein
synthesis and produce the structures of the cell. Genes that code for
amino acid sequences are known as 'structural genes'. The process of
gene expression involves two main stages:
Transcription: the production of messenger RNA (mRNA) by the
enzyme RNA polymerase, and the processing of the resulting mRNA
molecule
Translation: the use of mRNA to direct protein synthesis, and the
subsequent posttranslational processing of the protein molecule. Some
genes are responsible for the production of other forms of RNA that play
a role in translation, including transfer RNA (tRNA) and ribosomal RNA
(rRNA).
Transcription involves four steps:
1. Initiation. The DNA molecule unwinds and separates to form a small
open complex. RNA polymerase binds to the promoter of the template
strand (also known as the 'sense strand' or 'coding strand'). The synthesis
of RNA proceeds in a 5' to 3' direction, so the template strand must be 3'
to 5'.
2. Elongation. RNA polymerase moves along the template strand,

synthesizing an mRNA molecule. In prokaryotes RNA polymerase is a


holoenzyme consisting of a number of subunits, including a sigma factor
(transcription factor) that recognizes the promoter. In eukaryotes there
are three RNA polymerases: I, II and III. The process includes a
proofreading mechanism.
3. Termination. In prokaryotes there are two ways in which
transcription is terminated. In -dependent termination, a protein ? is
responsible for disrupting the complex involving the template strand,
RNA polymerase and RNA molecule. In ?- independent termination, a
loop forms at the end of the RNA molecule, causing it to detach itself.
Termination in eukaryotes is more complicated, involving the addition
of additional adenine nucleotides at the 3' of the RNA transcript (a
process referred to as polyadenylation).
4. Processing. After transcription the RNA molecule is processed in a
number of ways: introns are removed and the exons are spliced together
to form a mature mRNA molecule consisting of a single protein-coding
sequence. RNA synthesis involves the normal base pairing rules, but the
base thymine is replaced with the base uracil.
Translation involves four steps:
1. Initiation. The small subunit of the ribosome binds at the 5' end of the
mRNA molecule and moves in a 3' direction until it meets a start codon
(AUG). It then forms a complex with the large unit of the ribosome
complex and an initiation tRNA molecule.
2. Elongation. Subsequent codons on the mRNA molecule determine
which tRNA molecule linked to an amino acid binds to the mRNA. An
enzyme peptides transferee links the amino acids together using peptide

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bonds. The process continues, producing a chain of amino acids as the


ribosome moves along the mRNA molecule.
3. Termination. Translation in terminated when the ribosomal complex
reached one or more stop codons (UAA, UAG, UGA).
5. Post-translation processing of the protein.
Gene regulation
Gene regulation: Gene regulation is a label for the cellular processes
that control the rate and manner of gene expression. A complex set of
interactions between genes, RNA molecules, proteins (including
transcription factors) and other components of the expression system
determine when and where specific genes are activated and the amount
of protein or RNA product produced.
Some genes are expressed continuously, as they produce proteins
involved in basic metabolic functions; some genes are expressed as part
of the process of cell differentiation; and some genes are expressed as a
result of cell differentiation.
Mechanisms of gene regulation include:
1. Regulating the rate of transcription. This is the most economical
method of regulation.
2. Regulating the processing of RNA molecules, including alternative
splicing to produce more than one protein product from a single gene.
3. Regulating the stability of mRNA molecules. Regulating the rate of
translation.
Genetic Engineering

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Genetic engineering is the process by which scientists modify the


genome of an organism. Creation of genetically modified organisms
requires recombinant DNA. Recombinant DNA is a combination of
DNA from different organisms or different locations in a given genome
that would not normally be found in nature.
Genetic engineering is the science of altering living things by changing
the information encoded in their deoxyribonucleic acid or "DNA".
Genetic information is stored in DNA using four different chemicals
called adenine, cytosine, guanine and thymine. Abbreviated to the letters
"A", "C", "G", and "T", these base chemicals are coupled together to
form the linkages or "base pairs" that hold together the two spirals that
comprise every DNA molecule.
Any organism's entire genetic sequence is known as its "genome" and
contains millions and often billions of DNA base pairs. For example,
human DNA contains about three billion. However, rather than working
with individual base pairs, genetic engineering is concerned with far
larger DNA segments known as genes. The human genome contains
about 20,000 to 25,000 distinct genes, and was first mapped by
the Human Genome Project. In total, the human genome's three billion
chemical base pairs contains about 750Mb of information, which could
today be stored in your pocket on a 1Gb USB memory key. This is
perhaps interesting to ponder given that an initial major constraint faced
by the Human Genome Project was available computer storage capacity.
In vitro fertilization (IVF):
In the past fifteen years, massive scientific developments have taken
place in the fields of recombinant DNA technology and genetic
engineering. The year 1978 saw the birth of the worlds first test tube
baby, and the technique of in vitro fertilization(IVF) is now being
applied to the curing of infertility in Europe, America, Australia, Asia,

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and countries of the Third World. Even though these two areas of
science may have seemed unrelated in their beginnings, the two have
now converged. In vitro fertilization (IVF), the fertilization of egg with
sperm in an external environment, provides embryos that may be
reimplanted into a woman. Most women who go on IVF programs will
not give birth to a live baby. These embryos are also the raw material
which allows genetic experimentation to be possible. They are in an
external laboratory environment, which means they are accessible for
manipulation.
The simultaneous development of DNA technology and IVF techniques
has brought science and society to a unique point the possibility of
gene manipulation, to correct genetic disorders. Such manipulation, if
carried out on embryos, will affect future generations irreversibly, and its
application to humans inherently reinforces a discrimination against
those who are differently able in our society. It seeks to eradicate
defective genes from future human populations. Also, the increased
emphasis on isolating the causes of diseases as genetic ones and
neglecting environmental factors can be likened to the theories of
sociobiology and biological determinism.