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Lec25_140312.pdf

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Department
Statistics
Course
STAT151
Professor
Gregory Wagner
Semester
Winter

Description
Lec 25 BIOL207 2014-03-12 CHAPTER 9 A. Examples of human chromosomal abnormalities a. Down syndrome 47,XX,+21 or 47,XY,+21 i. most often caused by nondisjunction, most often in the female parent ii. too much DYRK protein (encoded on 21) may affect brain development b. Cri-du-chat syndrome; 46, XX or XY, del (5) i. developmental & mental defects ii. caused in part be too little CTNND2 required for neuronal migration c. Turner syndrome 45,X i. female (no Y to encode SRY gene to activate masculinization of embryo) ii. viable because only one X is sufficient in most cells iii. some abnormalities because some regions (pseudoautosomal regions) of both X chromosomes (or one X and one Y) are actually active in all cells iv. SHOX is gene for bone growth in pseudoautosomal regions v. 45, X infertile because two X required at oogenesis d. Klinefelter syndrome 47,XXY i. male (because of Y) ii. some fertility problems e. 47,XYY and 47,XXX are generally viable and normal
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