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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

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