352SLecture02_S11 - Genetics and Evolution Mutation Genetic...

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1 Genetics and Evolution Lecture 2 : Mutation – the source of variation Mutation Genetic variation : the raw material of evolution. Mutation : an inherited change in DNA. - Alleles for individual genes. - Changes in chromosome structure and number. Somatic vs. Germ-line Mutations (Fig. 10.1) Fig. 10.1 Somatic vs. Germ-line Mutations Types of Germ-line Mutations 2 types of germ-line mutations: - Gene (point) mutations - Chromosome mutations Gene mutations: produce new alleles. - Monomorphic genes - Polymorphic genes “wild type” allele vs. “mutant” allele. Forward vs. Reverse mutations
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2 Types of Gene Mutations Gene mutations: - Base substitution - Base insertion - Base Deletion Figure 10.2 Fig. 10.2 Base Substitutions Base substitutions: - Single nucleotide change - Simplest gene mutation Transitions: - Purine (A, G) replaced by another purine. - Pyrimidine (T, C) replaced by another pyrimidine. Transversions: - Purine replaced by pyrimidine or vice versa. Figure 10.3. Fig. 10.3
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3 Base Substitutions Effect of Base substitutions 0n the Phenotype: - Missense mutation: new codon new a.a. - Nonsense mutation: new codon “Stop” - Silent mutation: new codon Same a.a. -
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352SLecture02_S11 - Genetics and Evolution Mutation Genetic...

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