BIOL 1107 Chapter Notes - Chapter 14: Germline Mutation, Macular Degeneration, Dna Replication

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~ 60 per diploid zygote: 80% new mutation = from father. High blood pressure, diabetes, inflammatory bowl disease, age- related macular degeneration, alzheimer"s disease, cancer: colon cancer: genetic risk factors = apc, ras, p53, breast cancer = brca1 and brca2, environmental risk: smoking, sun, unhealthy diet, alcohol. Mutations are random with regard to an organism"s needs. Nonsynonymous mutation = amino acid replacement: sickle cell anemia = nonsynonymous mutation. Small insertions and deletions involve several nucleotides: cystic fibrosis = three nucleotide deletion = production of abnormal secretions in the lung/liver/pancreas/glands. Cftr protein = missing amino acid sequence: small deletion = frameshift. Dna strand by cleaving one of the strand backbones, degrading the sequence with the mismatch and resynthesizing from the intact dna strand: ex. E. coli: muts binds to the site of mismatch, brings 2 other proteins to the site. Mutl determines which dna backbone will be cleaved, muth cleaves the backbone in the vicinity of the mismatch.

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