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MUTATIONSUTATIONSChanges inChanges in DNADNA that affect geneticthat affect geneticinformationinformation


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Gene Mu tatio nsene Mu tatio ns Point Mutations changesPoint Mutations changes inin

one or a fewone or a few nucleotidesnucleotides

SubstitutionSubstitution THE FAT CAT ATE THE RATTHE FAT CAT ATE THE RAT

THE FAT HAT ATE THE RATTHE FAT HAT ATE THE RAT

InsertionInsertion THE FAT CAT ATE THE RATTHE FAT CAT ATE THE RAT

THE FAT CAT XLW ATE THE RATTHE FAT CAT XLW ATE THE RAT DeletionDeletion

THE FAT CAT ATE THE RATTHE FAT CAT ATE THE RAT

THE FAT ATE THE RATTHE FAT ATE THE RAT


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Gene Mu tatio nsene Mu tatio ns Frameshift Mutations shiftsFrameshift Mutations shifts

thethe reading framereadin

g frame of theof thegenetic message so that thegenetic message so that theprotein

protein may not be able tomay not be able to

perform itsperform its function.function. InsertionInsertion

THE FAT CAT ATE THE RATTHE FAT CAT ATE THE RAT

THE FAT HCA TAT ETH ERA TTHE FAT HCA TAT ETH ERA T

DeletionDeletion THE FAT CAT ATE THE RATTHE FAT CAT ATE THE RAT

TEF ATC ATA TET GER ATTEF ATC ATA TET GER AT

H

H


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ChromosomalhromosomalMu tatio nsu tatio ns Changes in number and structure of entireChanges in number and structure of entirechromosomeschromosomes

Original ChromosomeOriginal Chromosome ABC * DEFABC * DEF

DeletionDeletion AC * DEFAC * DEF

DuplicationDuplication ABBC * DEFABBC * DEF

InversionInversion AED * CBFAED * CBF

TranslocationTranslocation ABC * JKLABC * JKL

GHI * DEFGHI * DEF


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Sig nif icance o fig nif icance o fMu tatio nsu tatio ns Most are neutralMost are neutral

Eye colourEye colour

Birth marksBirth marks

Some are harmfulSome are harmful Sickle Cell AnaemiaSickle Cell Anaemia

Down SyndromeDown Syndrome

Some are beneficialSome are beneficial

Sickle Cell Anemia to MalariaSickle Cell Anemia to Malaria

Immunity to HIVImmunity to HIV


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What Cause shat Cause sMu tatio ns?u tatio ns? There are two ways in which DNA canThere are two ways in which DNA can

become mutated:become mutated:

Mutations can be inherited.Mutations can be inherited.

Parent to childParent to child

Mutations can be acquired.Mutations can be acquired.

Environmental damageEnvironmental damage

Mistakes when DNA is copiedMistakes when DNA is copied


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Ch romoso me Mu tatio nsh romoso me Mu tatio ns Down SyndromeDown Syndrome

Chromosome 21 doesChromosome 21 does

not separate correctly.not separate correctly.

They have 47They have 47chromosomes in steadchromosomes in stead

of 46.of 46.

Children with DownChildren with Down

Syndrome developSyndrome develop

slower, may have heartslower, may have heartand stomach illnessesand stomach illnesses

and vary greatly in theirand vary greatly in their

degree of inteligence.degree of inteligence.


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ChromosomalhromosomalMu tatio nsu tatio ns Cri-du-chatCri-du-chat

Deletion of material on 5Deletion of material on 5thth

chromosomechromosome Characterised by the cat-likeCharacterised by the cat-like

cry made by cri-du-chatcry made by cri-du-chat

babiesbabies

Varied levels of mentalVaried levels of mental

handicapshandicaps


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Se x Ch ro mosomee x Ch ro mosomeAb norma litie sb norma litie s KlinefeltersKlinefelters

SyndromeSyndrome

XXY, XXYY, XXXYXXY, XXYY, XXXY MaleMale

SterilitySterility

Small testiclesSmall testicles

Breast enlargementBreast enlargement


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Se x Ch ro mosomee x Ch ro mosomeAb norma litie sb norma litie s XYY SyndromeXYY Syndrome

Normal male traitsNormal male traits

Often tall and thinOften tall and thin

Associated with antisocial and behaviouralAssociated with antisocial and behavioural

problemsproblems


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Se x Ch ro mosomee x Ch ro mosomeMu tatio nsu tatio ns

Turners SyndromeTurners Syndrome

XX

FemaleFemale sex organs don'tsex organs don't

mature atmature at

adolescenceadolescence

sterilitysterility short statureshort stature


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Se x Ch ro mosomee x Ch ro mosomeMu tatio nsu tatio ns XXXXXX

Trisomy XTrisomy X

FemaleFemale Little or no visible differencesLittle or no visible differences

tall staturetall stature

learning disabilitieslearning disabilities

limited fertilitylimited fertility


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