Bio II Material - UNIT II SLIDE SET VII I Extensions of...

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UNIT II: SLIDE SET VII I. Extensions of Mendel’s Rules (continued) E. Sex Linked Inheritance 1. Sex chromosomes 2. Systems of sex determination a. XY system b. X0 systems c. ZW systems d. Haplo-diploid systems e. Non-chromosomal sex determination 3. X-linked inheritance 4. Y-linked inheritance 5. Effects of sex on autosomal traits 1 Monday, June 13, 2011
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II. Pedigree analysis A. Symbols B. Analyzing modes of inheritance using pedigrees C. Examples III. Human genetic abnormalities A. Chromosome abnormalities 1. Aneuploidy and non-disjunction a. Down syndrome b. Turner syndrome c. Klinefelter syndrome 2. Chromosomal mutations B. Dominantly and recessively inherited disorders 2 Monday, June 13, 2011
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IV. Genetic Testing A. Molecular detection of specific alleles B. Pedigree analysis C. Fetal testing 1. amniocentesis 2. chorionic villus sampling (CVS) 3. ultrasound 4. Fetoscopy D. Newborn screening E. Gene therapy F. Ethics/privacy issues V. Nature vs. Nurture A. Phenotypic plasticity 1. the “norm of reaction” 2. examples 3 Monday, June 13, 2011
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Exceptions to Mendel’s rules (cont’d): 4. Individuals have 2 versions (alleles) for each gene (i.e., alleles occur on homologous pairs of chr’somes) Exception: genes on the X or Y chromosomes (= “ sex-linked ” genes: genes “linked” to or found on one of the sex chromosomes) 4 Monday, June 13, 2011
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Y chromosome (replicated) Fig. 15.5 (7 th : p. 282) X chromosome (replicated) 5 Monday, June 13, 2011
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Y chromosome (replicated) in humans and many other species, the composition of the sex chromosomes varies between males and females. Fig. 15.5 (7 th : p. 282) X chromosome (replicated) 5 Monday, June 13, 2011
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Y chromosome (replicated) in humans and many other species, the composition of the sex chromosomes varies between males and females. females XX , males XY Fig. 15.5 (7 th : p. 282) X chromosome (replicated) 5 Monday, June 13, 2011
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Y chromosome (replicated) in humans and many other species, the composition of the sex chromosomes varies between males and females. females XX , males XY these X and Y chromosomes can have some same & some different genes Fig. 15.5 (7 th : p. 282) X chromosome (replicated) 5 Monday, June 13, 2011
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Y chromosome (replicated) in humans and many other species, the composition of the sex chromosomes varies between males and females. females XX , males XY these X and Y chromosomes can have some same & some different genes but the X and Y act like homologues during meiosis because of “pseudoautosomal” regions (regions in common) Fig. 15.5 (7 th : p. 282) X chromosome (replicated) 5 Monday, June 13, 2011
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Human copyright © 1994 David Adler http://www.pathology.washington.edu/research/cytopages/idiograms/human/ http://www.pathology.washington.edu/galleries/Cytogallery/main.php?file=human%20karyotypes RECALL: human male and female karyotypes male female no “Y” 6 Monday, June 13, 2011
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humans: XX (female) x XY (male) male gametes: 1/2 X 1/2 Y female 1/1 X gametes (only X is possible) 1/2 XX 1/2 XY 7 Monday, June 13, 2011
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humans: XX (female) x XY (male) male gametes: 1/2 X 1/2 Y female 1/1 X gametes (only X is possible) 1/2 XX 1/2 XY Therefore: in humans, gender of offspring is “determined” by father’s gamete (sperm) 7 Monday, June 13, 2011
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