MGY250H1 Study Guide - Final Guide: Indel, Northern Blot, Aneuploidy

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Nondisjunction: sister chromatids cannot separate in either round of meiosis. Nondisjunction during first meiotic division: one cell contains all 4 copies other has 0 copies, result in trisomy and monosomy. If nondisjunction occurs during meiosis ii, 2/4 are normal: one cell contains 2 copies and the other will have no copies, results in diploid, trisomy and monosomy. Turner"s syndrome, trisomy 21, klinefelter all result from nondisjunction* Genetic anticipation is the increase in severity of a disease at earlier ages. Pattern becomes more severe at even earlier ages as it is transmitted down each generation. Genetic anticipation is an increase in severity and decrease in age of onset in successive generations: most likely due to increased size of triplet repeats* Dynamic mutation is an unstable heritable element: probability of mutant phenotype expression: function of # of mutant copies, e. g. trinucleotide repeat disorders* Repeats occur in telomeres, between genes and at the centromere.

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