PCB 3063 Chapter Notes - Chapter 18: Missense Mutation, Frameshift Mutation, Nonsense Mutation

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Scope of mutations: gene mutations: affect a single gene, chromosome mutations: affect number or structure of chromosomes, mutations can be used to learn about biological processes. Types: somatic: somatic tissues; passed to daughter cells (mitosis) within an organism) Form a clone of the original mutated cell; 1 per million cells; no observable phenotype change. Totally causes ~cancer: germ-line: cells that will give rise to gametes; will be passed to future generations. Transition: purine to another purine or pyrimidine to another pyrimidine. Transversions: purine replaced by pyrimidine or vice versa (a or g) (c or t) and (c or t) (a or g: insertions/deletions: addition or removal of one of more nucleotides. Can lead to frameshift mutations: changes in the reading frame of the gene; usually alter all amino acids after shift and can drastically change the phenotype. # of extra copies often correlates with the severity and onset age of the disease in question.

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