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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:
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.
Autosomalmutations:
Thistypeofmutationoccursin
autosomalchromosomes.
Examplesinclude,SickleCell,Tay
SachsDiseaseandmanymore.
Sexchromosomal
mutations:
Thistypeofmutationoccursin
sexchromosomesandpasstothe
nextgeneration.Examplesinclude
Haemophilia,ColorBlindness,
MalePatternBaldness.
Affect on Health
1. No effect:.
somemutationsalteragene'sDNAsequencebutdonot
changethefunctionoftheproteinmadebythegene
.
repairedbycertainenzymesbeforethegeneisexpressed
silentmutations.
3.Positive affect:mutationsleadtonewversionsofproteins
thathelpanindividualbetteradapttochangesin
hisorherenvironment.
4. Genetic disorders:-
Disruptionofnormaldevelopment
Mostinheritedgeneticdiseasesarerecessive
Marriagebetweencloserelativesisdiscouraged
Affect on Development
Insomecases,genemutationsare
soseverethattheypreventan
embryofromsurvivinguntilbirth.
Thesechangesoccuringenesthat
areessentialfordevelopment,and
oftendisruptthedevelopmentofan
embryoinitsearlieststages.
Becausethesemutationshavevery
seriouseffects,theyare
incompatiblewithlife.
Mutation Rate
Ingenetics,mutationrateisameasureoftherateat
whichvarioustypesofmutationsoccurovertime.
Significance of Mutation
Variability
Evolution
Industrial
microbiology
Health hazard
Animal husbandry
Agriculture