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Brooker_Chp8P - Chapter 8 Variation in Chromosome Structure...

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Chapter 8 Variation in Chromosome Structure and Number
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Mutation at the Level of the Chromosome due to Altered Structure
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Deletions are generally detrimental [When one gene copy isn’t ‘enough’] Cri-du-chat Syndrome : Infants ‘meow’ like kittens & have feeding problems; short stature; delayed mental development; unique facial features
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Duplications less harmful – can lead to evolution of gene families
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Evolution of the Globin Gene Family
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Multiple Alterations may Occur within/between Chromosomes Example within homologous chromosomes: Duplication coupled with deletion
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Chromosomal inversions identified with respect to centromere involvement Altered position may affect gene expression
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Reciprocal Translocation between Nonhomologous Chromosomes Translocation may be ‘balanced’ or ‘unbalanced’
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Unbalanced Translocation Example: Familial Down Syndrome Robertsonian Translocation - Involves acrocentric chromosomes - Long arm of one chromosome attaches to nonhomologous chromosome - 1 chromosome 14 carries chromosome 21q sequences Result: 3 copies of 21q From: Wikipedia
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Variation in Chromosomal Number
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Basis for errors in chromosomal inheritance: Nondisjunction Tetrads fail to separate Sister chromatids don’t separate
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