Study notes for lecture 3

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Department
Human Biology
Course
HMB265H1
Professor
Stephen Wright
Semester
Winter

Description
Lecture 03: Molecular basis for genetic polymorphisms and their detection Mendelian traits are encoded in DNA - Allelic differences at DNA level influence mRNA expression andor protein function, thus phenotype - DNA mRNA protein organismal traits Single nucleotide polymorphisms: alleles - Nucleotide sequences differ in 1 place, by 1 nucleotide Genotype: at DNA level o No dominance, recessiveness o Codominance ?? o Mutations: ultimate source of allelic variation - Point mutations (AKA SNPs) - Insertionsdeletions - Changes in repeat number - Chromosomal rearrangements Mendelian traits encoded by proteins - SNP change in 1 amino acid disrupts enzyme activity Mendelian genes encode proteins o Detection of allelic polymorphisms - Visualize allelic polymorphism o At DNA seq
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