mcbm2review - factor (protein) ⁃ pseudoautosomal region...

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MCB REVIEW look at chromosomes when condensed in mitosis look for abnormalities in fetus w/ amniocentesis -- missing chromosome (monosomic -- 45 chromosomes) or extra chromosome (trisomic -- 47 chromosomes) humans have 44 autosomes and 2 sex chromosomes (XX or XY) ((23 from each parent))-- look at w/ karyotype aneulploidy -- missing/extra AUTOSOMES -- spontaneous abortions/death 1000s of genes on chromosomes -- mutation is for thousands of genes, many problems but for sex chromosomes. ..(can survive) diseases XXY (Klinefelter's Syndrome) XO (Turner Syndrome) XXX (Trisomy X) XYY dosage compensation in XX Barr bodies -- males don't have Barr bodies Sex determination in flies sex is determined by ration of sex chromosomes to autosomes (not based off of Y chromosome as in mammals) in mammals, SRY on Y chromosome determines sex -- encodes a transcription
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Unformatted text preview: factor (protein) ⁃ pseudoautosomal region ⁃ Syndromes ⁃ 5 alpha reductase deficiency: (XY are affected) DHT is not produced b/c no enzyme -> no external male structures (still have internal male structures) ⁃ androgen insensitivity syndrome: (XY) receptor for steroids (testosterone and DHT) are missing, so Wollfian ducts don't develop and external structures don't develop -- see when females don't menstruate (just like a female, but XY) have internal testes which need to be removed ⁃ congenital adrenal hyperplasia: (XX & XY) don't produce aldosterone or cortisol (imprt steroid hormones -> medical problems) missing enzyme which usually goes to A & C just goes to make too much testosterone (XX individuals masculinized) ⁃...
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This note was uploaded on 10/12/2009 for the course MCB 41 taught by Professor Garriga during the Spring '07 term at University of California, Berkeley.

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