Biology 1202B Lecture Notes - Lecture 19: Nondisjunction, Down Syndrome, Homologous Chromosome

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Biology 1202b lecture 19: human genomics and genetic disease ii. Structure: chromosome break and abnormal rejoin. Numerical abnormalities quantitatively alter gene expression: structure abnormalities may do the same. Most genes are present as 2 copies and expressed from both. Abnormalities lead to an increase/decrease in copy and thus expression: altered phenotypes. Only 3 autosomal trisomies survive postnatal: 21, 18, and 13, the phenotype of a trisomy depends on the genes on the extra chromosomes. Failure of a pair of chromosomes to disjoin during one of the meiotic divisions: different outcomes when the nondisjunction is meiosis i or ii. Incidence increases with maternal age: the older the egg, the greater the chance of nondisjunction, egg completes meiosis i just prior to ovulation. Structure alterations may be balanced or unbalanced: deletion. Gain or loss of genetic material is more severe: duplication. Depends on size and genes/regulatory sequences in the region: reciprocal chromosome.

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