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Genetics

Gene mutation

Contents:
What is mutation its historical background and its
occurrence.
Classification
Affect of Gene Mutation on Health and Development
of Human
Mutation rates
Factors affecting the mutation
significance

GENE MUTATION:
Agene mutationisapermanentalterationintheDNAsequence
that
makesupagene
Soamutationcanberegardedasa
changeintheDNA,RNAorProtein
Changemayinvolveonebase/basepair
ormorethanonebasepairofDNA
Mutationsoccurinarandommanner.

Mostmutationsoccurspontaneouslybyenvironmental
effectandcanbeinducedinlaboratory.
Aunicellularorganismismoresubjectedtoslaughtsinceit
isatthesametimeasomaticorgermcell.
Inmulticellularorganismsthegermcellsaredistinctcells,
andarerelativelyprotectedfromtheenvironment.
Mutationhasasignificantroletoplayintheoriginof
speciesorevolution.

HISTORY
EarliestRecord:1791bySETH WRIGHT
Noticedalambwithexceptionally
withshortlegsinhisflockofsheep
Visualisingeconomicimportanceof
thisshortleggedsheep
i.e.theycouldnotcrossstonefence
Heproducedflockofsheephaving
shortlegsbyartificialbreeding

OCCURANCE
MutationFrequentlyoccurinnatureand
hasbeenreportedinmyorganism
IntheDrosophilamutationcause
whiteandpinkeye,
blackyellowbodycolor,
vestigialwings
InRodentmutationisresponsible
forblackandwhitecoats

InManmutationcausevariationinhaircolor,eyecolor,
skinpigment
VariousGeneticaldiseaseofhumanbeingssuchas
haemophila,colorblindnessarealsoexampleofgene
mutation

Classification
different
According
to size andon
quantity
.

criteria:

DNA sequence of a gene can be altered in a number of ways

Missense mutation:
Thistypeofmutationisa
changeinoneDNAbase
pairthatresultsinthe
substitutionofoneamino
acid

Nonsense mutation:
Anonsense
mutationisalsoa
changeinone
DNAbasepair.
Insteadof
substitutingone
aminoacidfor
another,,the
alteredDNA
sequence
prematurelysignals
thecelltostop
buildingaprotein

Insertion
An insertion
changes the
number of DNA
bases in a gene by
adding a piece of
DNA. As a result,
the protein made by
the gene may not
function properly.

Deletion
A deletion changes
the number of DNA
bases by removing a
piece of DNA. Small
deletions may
remove one or a few
base pairs within a
gene, while larger
deletions can remove
an entire gene or
several neighboring
genes. The deleted
DNA may alter the
function of the
resulting protein(s).

Duplication
A duplication
consists of a piece
of DNA that is
abnormally copied
one or more times.
This type of
mutation may
alter the function
of the resulting
protein.

Frameshift
mutation
This type of mutation
occurs when the addition
or loss of DNA bases
changes a gene's reading
frame. A reading frame
consists of groups of 3
bases that each code for
one amino acid. A
frameshift mutation shifts
the grouping of these
bases and changes the
code for amino acids. The
resulting protein is usually
nonfunctional. Insertions,
deletions, and duplications
can all be frameshift
mutations.

Repeat
expansion
Nucleotide repeats are
short DNA sequences that
are repeated a number of
times in a row. For
example, a trinucleotide
repeat is made up of 3base-pair sequences, and
a tetranucleotide repeat is
made up of 4-base-pair
sequences. A repeat
expansion is a mutation
that increases the number
of times that the short
DNA sequence is repeated.
This type of mutation can
cause the resulting protein

According to origin:
Spontaneous mutation:
The spontaneous mutation occurs suddenly in
the nature and their origin is unknown. They
are also called background mutation and
have been reported in many organisms such
maize ,bread molds ,microorganisms, mice
and man etc.
Induced mutation:
besidesnaturallyoccurringspontaneousmutations,the
mutationscanbeinducedartificiallyintheliving
organismsbyexposingthemtoabnormalenvironment
suchasradiation,certainphysicalconditionsand
chemicals.Thesubstanceoragentswhichareinduce
artificialmutationsarecalledmutagens or mutagenic

According To Magnitude
Of Phenotypic Effect
Accordingtotheirphenotypiceffectfollowingkindsof
mutationmayoccur:

Dominantmutations
Recessivemutations
Isoalleles
Lethalmutations

Dominant Mutations
1.

Themutationswhichhavedominant
phenotypicexpressionsarecalled
dominantmutations.Forexample,in
manthemutationdisease
aniridia(absenceofirisofeyes)occurs
duetoadominantmutantgene.

2.

HypophosphatemicricketsisanXlinkeddominanttrait.Itisarare
hereditarydisease.Itisdifferentfrom
commondietaryrickets,whichcouldbe
curedbytakingvitaminD.Itdoesnot
resultfromvitaminDdeficiencybutits
causeisageneticcommunicationfailure
atmolecularlevel.Thegenesencoding
boneproteinsneverreceivevitaminDs
messagetofunctionresultinginbones
deformingandshortstature.

Recessive mutations:
Theyarenotexpressed
phenotypically
immediately.The
phenotypiceffectsof
mutationsofarecessive
geneisseenonlyafterone
ormoregenerations,
whenthemutantgeneis
abletorecombinewith
anothersimilarrecessive
gene.

Isoalleles:
Somemutationsalterthephenotypeofanorganismsoslightlythat
theycanbedetectedonlybyspecialtechniques.Mutantgenesthat
giveslightlymodifiedphenotypesarecalledisoalleles.Theyproduce
identicalphenotypesinhomozygousorheterozygouscombinations.

Lethalmutations:
Accordingtotheireffectsonthephenotypemutationsmaybe
classifiedaslethal,subvitalsandsupervitals.
Lethal mutationsresultinthedeathofthecellsororganismsin
whichtheyoccur.ExampleincludesHuntingtondisease.
Subvitals mutationsreducethechanceofsurvivalofthe
organisminwhichtheyoccur.Supervital mutations, in
contrast,causetheimprovementofbiologicalfitnessunder
certainconditions.

According to the Types of


Chromosomes

Autosomalmutations:

Thistypeofmutationoccursin
autosomalchromosomes.
Examplesinclude,SickleCell,Tay
SachsDiseaseandmanymore.

Sexchromosomal
mutations:

Thistypeofmutationoccursin
sexchromosomesandpasstothe
nextgeneration.Examplesinclude
Haemophilia,ColorBlindness,
MalePatternBaldness.

Affect of Gene Mutation on Health


and Development of Human
Importance
Analogyofinstitutions
Functionofproteins
Malfunction

Affect on Health
1. No effect:.

somemutationsalteragene'sDNAsequencebutdonot

changethefunctionoftheproteinmadebythegene
.

repairedbycertainenzymesbeforethegeneisexpressed
silentmutations.

2. Small change occurs in phenotype:Asinglemutationcausedthiscat'searstocurl


backwardsslightly.

3.Positive affect:mutationsleadtonewversionsofproteins
thathelpanindividualbetteradapttochangesin
hisorherenvironment.

4. Genetic disorders:-
Disruptionofnormaldevelopment
Mostinheritedgeneticdiseasesarerecessive
Marriagebetweencloserelativesisdiscouraged

Genetic Disorders due to Single


Gene Mutation
1. Cystic fibrosis:. autosomalrecessivedisease
. causedbymutationstothe
(CFTR)genelocatedonhuman
chromosome7
. leadstocloggingofairwaysinthelungs
andinterfereswithpancreaticsecretions
2. Sickle cell anemia:groupofdisordersthataffectshemoglobin
mutationinahemoglobin beta (HBB),
locatedonchromosome11.

3.Tay-Sachs disease (TSD):fatalgeneticdisorder


destructionofthenervoussystem.
absenceofavitalenzymecalledHex-A
4. Phenylketonuria
Inheriteddisorderofmetabolism
Increaseinthebloodofachemicalknownasphenylalanine
ItisduetomutationsinthePAH gene.
5. Color-blindness
Red/greenandbluecolorblindnessisusuallypasseddownfrom
parents.
ThegenewhichisresponsiblefortheconditioniscarriedontheX
chromosomeandthisisthereasonwhymanymoremenareaffected
thanwomen.

Affect on Development
Insomecases,genemutationsare
soseverethattheypreventan
embryofromsurvivinguntilbirth.
Thesechangesoccuringenesthat
areessentialfordevelopment,and
oftendisruptthedevelopmentofan
embryoinitsearlieststages.
Becausethesemutationshavevery
seriouseffects,theyare
incompatiblewithlife.

Mutation Rate
Ingenetics,mutationrateisameasureoftherateat
whichvarioustypesofmutationsoccurovertime.

Factors affecting the mutation rate:


Environmentalstress
UVrays

Significance of Mutation
Variability
Evolution

Industrial
microbiology
Health hazard
Animal husbandry
Agriculture