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 Mendels 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 Mendels rules (contd): 4. Individuals have 2 versions (alleles) for each gene (alleles occur on homologous pairs of chrsomes) 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 chrsomes 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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