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Slide 1

Mutation

Mutation

Higher Biology

Slide 2

Mutation

Mutation

Change in structure or amount of an organisms genetic material

Change in genotype produces change in phenotype = mutant

2 types of mutation

Chromosome mutation

Change in structure of one chromosome

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Chromosome mutations

Chromosome mutations

Change in chromosome number

Non-disjunction in meiosis

Non-disjunction of sex chromosomes

Complete non-disjunction and polyploidy

Slide 4

Non-disjunction during meiosis

Non-disjunction during meiosis

Spindle fibre fails during meiosis

Members of one pair of homologous chromosomes fail to become separated

2 gametes receive extra copy of affected chromosome

2 gametes lack that chromosome

Slide 5

Non-disjunction during meiosis

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Downs Syndrome

Downs Syndrome

Non-disjunction in chromosome 21

Occurs in human egg mother cell

One or more abnormal eggs formed (n = 24)

Fertilised by normal sperm (n = 23)

Formation of abnormal zygote (2n = 47)

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Downs Syndrome

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Downs Syndrome

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Non dis-junction of sex chromosomes

Non dis-junction of sex chromosomes

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Turners syndrome

Turners syndrome

Gamete with no sex chromosomes fuses with normal X gamete

Zygote has chromosome complement 2n = 45

Individuals are female and short in stature

Infertile because ovaries havent developed normally

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Turners syndrome

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Klinefelters syndrome

Klinefelters syndrome

XX egg fertilised by normal Y sperm

or

Normal X egg is fertilised by an XY sperm

Zygote has chromosome complement 2n = 47 (44 + XXY)

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Klinefelters syndrome

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Always male

Always male

Normally infertile

Cannot produce sperm

Slide 15

Complete non-disjunction and polyploidy

Complete non-disjunction and polyploidy

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