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Human Mutations
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Mutations If an error occurs during DNA replication (also known as a gene mutation) Something goes wrong with meiosis leading to chromosomal abnormalities
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Gene Mutations Point mutation: substitution, addition, or removal of a single nucleotide Substitution results in a new codon Inserts or deletions result in a frame shift – causing a new codon
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Non-disjunction Failure of chromosome to separate from its homologue during meiosis; one gamete receives an extra copy and the other one lacks a copy
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Deletions Loss of a piece of chromosome due to breakage
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Inversion A segment breaks off and reattaches in reverse order
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Translocation Chromosome piece breaks off and reattaches to another nonhomologous chromosome
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Normal Female
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Normal Male
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Turner’s Syndrome
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Down’s Syndrome
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Klinefelter’s Syndrome
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