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Human Mutations.

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Presentation on theme: "Human Mutations."— Presentation transcript:

1 Human Mutations

2 Mutations If an error occurs during DNA replication (also known as a gene mutation) Something goes wrong with meiosis leading to chromosomal abnormalities

3 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

4 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

5 Deletions Loss of a piece of chromosome due to breakage

6 Inversion A segment breaks off and reattaches in reverse order

7 Translocation Chromosome piece breaks off and reattaches to another nonhomologous chromosome

8 Normal Female

9 Normal Male

10 Turner’s Syndrome

11 Down’s Syndrome

12 Klinefelter’s Syndrome


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