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Lecture 7 - BICD 100 Genetics Winter 2008 Lecture 6...

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Lecture 6 31/1/08 Mutations The nature of mutation What is a genetic change in terms of DNA? How do mutations affect genes, and how do we use them to interpret gene function? The range of genetic variation Change in genome copy number (ploidy); change in chromosome number (aneuploidy); chromosome mutations; gene mutations ( point mutations ). Types of point mutation: base pair substitutions. Know the difference between transition and transversion. Insertions and deletions (indels). Trinucleotide repeat expansion. How mutations affect genes: missense and nonsense changes. Resistance of genetic code to transitions. Mutations, alleles and polymorphisms. How do mutations arise? Mutagenesis Muller 1927: discovery that X-rays are mutagenic 1. “Spontaneous mutation” a. Errors in DNA replication (tautomers? wobble pairing?) (rare: error rate 1 in a billion) b. Spontaneous chemical changes e.g. depurination, deamination 2. Chemical mutagens (many kinds) a. Base modifiers e.g. Ethyl methane sulfonate. Causes transitions b. Intercalating agents e.g. acridine dyes.
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