2011 Slide Set VII Spr08

2011 Slide Set VII Spr08 - UNIT II SLIDE SET VII I...

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Unformatted text preview: 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 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 Human Genetic Diseases and Traits See “handout” posted on Blackboard and pay particular attention to disorders/conditions with three asterisks (***) 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 Exceptions to Mendel’s rules (cont’d): 4. Individuals have 2 versions (alleles) for each gene (alleles occur on homologous pairs of chr’somes) Exception: _________________________________________ (= ______________________________) X chromosome (replicated) Y chromosome (replicated) • in humans and many other species, the composition of the sex chromosomes varies between males and females. • females _____ , males ______ • these X and Y chromosomes ____________________________ • but the X and Y ____________________ during meiosis because of “pseudoautosomal” regions 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 Human male and female karyotypes XX (female) x XY (male) male gametes 1/2 X 1/2 Y female 1/1 X gametes (only X is possible) • Sex of offspring determined by composition of ___________________ • Explains ______________________ in population 1/2XX 1/2 XY Human Y-chromosome SRY locus= s ex-determining r egion on Y _______________________________ ________- gonads cells produce H-Y antigen on cell surfaces - gonads develop into testes (=“male”) ________________________________, ________________________ - gonads develop into ovaries (= “female”) Human gonadal development in the presence or absence of the Y chromosome Figure 7.19 Human Heredity, 4th edition, Michael R. Cummings Chromosomal Systems of Sex Determination Fig. 15.9 Humans: males are the “ ______________ ” sex females are the “ ____________ ” sex birds: males are “homogametic” females are “heterogametic” Haplo-diploid sex determination- social insects (ants, bees)- no sex chr’somes involved- Fertilized egg = diploid female- Unfertilized egg = haploid males! XY sex determination In some plants There are also ____________________ mechanisms of sex determination… __________________________...
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2011 Slide Set VII Spr08 - UNIT II SLIDE SET VII I...

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