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HMB265H1 (242)

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Human Biology
Stephen Wright

LECTURE 17 MUTATION Announcements: o Solutions manual hard copy not yet available get it in the next couple of weeks o Midterm makeup done will soon post instructions to obtain copy of original exam 8 lectures left -started with Mendelian genetics, single-gene traits then quantitative traits, mapping QTL Now molecular aspects of genetics today: mutations Mutations Process by which allele changes into another allele New alleles can occur Can mutate randomly, at any time, in any cell of organism Can arise spontaneously, through natural causes OR be induced by mutagen Germline cell mutations are transmitted to progeny, not somatic mutations Rate of forward mutation always higher than rate of reverse mutation Forward: wildtype to mutant Reverse: mutant back to wildtype Classified by effect on underlying DNA Substitution AKA point mutation Indel mutations= insertion-deletion Inversion: deleted, twisted around, reinserts = 180 rotation o Within same chromosomal location Reciprocal translocation nonhomologous Four types of bases Substitution Classified into two different types transition, transversion Transition purine base changed into another purine; or pyrimidine into other pyrimindine o Same chemical category Transversion purine changes into pyrimidine; vice versa When one base changes on one strand, complementary change on opposite strand during replication Mutations are important because Basis of genetic variation Driving force behind evolution Disrupt gene function so can study wildtype function of gene
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