GENE LOCATION,FUNCTION
& SIGNIFICANCE
By –
RENUKA SHUKLA
M.PHARM I Yr
MOLECULAR BIOLOGY
CONTENTS
INTRODUCTION
LOCATION OF GENE
STRUCTURE OF GENE
GENE-A GENETIC MAKEUP
REGULATION OF GENE
ROLE & SIGNIFICANCE OF GENE
INTRODUCTION :
Gene
Basic functional & smallest genetic structural unit .
Made up of DNA
Genes carry the genetic information which guides our
growth,development & health.
‘’ GENES ARE BASICS FOR GENETIC BOOK OF LIFE “
Gene is made up of two units
intron & exon
Introns : it is a DNA region in
a gene that is not translated
into protien.
Exon : a nuclic acid sequence
that is represented in a mature
form of RNA molecule.
HOW DO GENES WORK?
LOCATION OF GENE
Genes are located in chromosomes.
Since chromosome comes in pair so gene also come
in pair.
Genes are also located outside nucleus in
mitochondria
Mitochondrial gene is not arranged in chromosome.
GENE - A GENETIC MAKEUP
Body is made of millions of cells.
Each cell contain complete copy of person’s
genetic plan(blue print).
This genetic plan is packaged in the cell in the form of
gene.
Gene convert this plan into function by replication,
transcription, trsnslation.
REGULATION OF GENE
It is the process by which gene can be turned on or
turned of.
Allow cells to react quickly to change in their
environment.
It can occur at any point of gene expression .
Not all genes are ‘switched on’ at all time.
FUNCTIONS AND
SIGNIFICANCE
All of 20,000 or so genes contain a different
‘packets of information’ necessary for our body to
grow and work.
Gene contain recipes for the body to make protein.
Responsible for heredity.
Physical characters are also presented by genes .
INFORMATION IN THE GENE
In genes information stores in the form of base pair .
These are responsible for gene function.
Purine base- Adinine
Guanine
Pyridine base- Thymine
Cytosine
Uracil
Any alteratioin in these gene basepair cause alteration in gene
function called mutation.
INFORMATION IN THE GENE
TYPES OF GENE
According to function two types of genes are there-
Protein coding gene.
protein non coding gene.
Protein coding gene- they transcribed as well as translate into
protein and expressed.
Protein non coding gene- they are transcribed ut not translated
into protein.
Eg- tRNA, rRNA.
HYPOTHESIS
One gene one enzyme hypothesis.
One gene one protein hypothesis.
Eg – Gene code to Glucose 6 phosphate
any alteration or absence of this gene may
lead to sickle cell anemia.
GENETIC DISORDER
There are many disease caused by only disturbance
in gene sequence.
Eg :-
Niemann-pick disease-sphingomyelinase.
Gaucher disease-Bglucocerebrose.
Phenylketonuria-phenylalanine hydroxylase.
Von gierk disease-glucose 6 phasphate.
etc……..
THANK YOU