don’ t l et this happen to you! !
TRANSCRIPT
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Don t l et this happen toyou! !
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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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