HMB265H1 Lecture Notes - Lecture 3: Single-Nucleotide Polymorphism, Allele Frequency, Mutation Rate

• School: UTSG
• Department: Human Biology
• Course: HMB265H1
• Professor: Maria Papaconstantinou

Document Summary

Homework: (ch2) 22-23; (ch7) 215-219; (ch8) 246-239; (ch15) 491-500. Lecture notes: molecular basis of genetic polymorphisms & their detection. Mutation is the process whereby genes change from one allelic form to another. The creation of entirely new alleles can occur. Genes mutate randomly, at any time and in any cell of an organism. Can arise spontaneously during normal replication, or can be induced by a mutagen. Only mutations in germline cells (gametes) can be transmitted to progeny. Inherited mutations appear as alleles in populations of individuals. Only germline mutations are inherited from one gen to next, not somatic mutations. Allele frequency is the percentage of the total number of gene copies represented by one allele - total copy divided by types of allele. Wild-type allele whose frequency is 1% Mutant allele allele whose frequency is < 1% Monomorphic gene with only one wild-type allele. Polymorphic gene with more than one wild-type allele.