HMB265H1 Study Guide - Midterm Guide: Tumor Suppressor Gene, Brca1, Phenyl Group
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HMB265H1 Full Course Notes
Verified Note
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Document Summary
Mutations: point mutations (snps): atg atc, insertions/deletions: atg atgg, changes in repeat number atgatg atgatgatg, chromosomal rearrangements atgcagt tgacgta. Mutation in exon result in altered function coded protein. Mutation in promoter result in no transcription=no function. Mutation in active site result in no function. Pku: mutation results in phenylalanine making phenyl pyruvic acid and interferes with nervous system development, in both axons and introns (splice interference, more likely in turkish population, least likely in japanese population. Brca1: mutation in tumor suppressor gene interfere with dna repair and lead to cancer risk. 50% of normal genes can give normal phenotype. Snp detection: aa no disease, ag carrier, gg diseased. Cancer: sequencing for causal mutation (identifying causal snp) use snp detection to screen at risk relatives. Model organism: rapid generation time, easy to grow/breed, large number of offspring, self-fertilize. Aa x aa affected, unaffected progeny. 2 affected can produce healthy kid if both heterozygous. Two unaffected parents might have affected kids.
