2011 Slide Set VIII Spr11

2011 Slide Set VIII - UNIT II SLIDE SET VIII II Pedigree analysis A Symbols B Analyzing modes of inheritance using pedigrees C Examples III Human

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UNIT II SLIDE SET VIII 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
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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
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II. Pedigree analysis: - examination of a trait over several generations to ascertain the type of inheritance governing a particular trait one asks: - is the allele coding for a trait dominant or recessive ? - is the trait sex-linked or autosomal ? - if sex-linked, is it X - or Y - linked ? Why do this?
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Mating between man ( SQUARE! ) and woman ( CIRCLE ) children in order of birth (from left to right) shaded shapes = “affected” individuals (for the trait of interest) Essential Pedigree Symbols
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Other Symbols Used in Pedigree Analysis ( FYI only ) Figure 3.18 Human Heredity, 4th ed., Michael R. Cummings
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*** *** *** *** *** “consanguineous mating” = among mating Highly inbred individuals are more often homozygous for recessive alleles (often harmful) than the general population
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autosomal dominant autosomal recessive X-linked dominant X-linked recessive Y-linked A* , a A , a* X A * , X a X A , X a * look for trait that only shows up in males AND that is inherited from fathers to all sons Analyzing Pedigrees one asks: - is the allele coding for a trait dominant or recessive? - is the trait sex-linked or autosomal? - if sex-linked, is it X- or Y-linked? asterisk symbolizes allele that causes the “shaded” trait of interest
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Attached earlobe Free earlobe = male = female = attached ff ff ff ff ff Ff Ff FF/Ff Ff FF/Ff Ff Ff Fig 14.15b; 7 th : 14.14b: Use of pedigree analysis:
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autosomal recessive X-linked dominant X-linked recessive Y-linked NO NO NO NO POSSIBLE Example 1 (why not?) (why not?) (why not?) (why not?) (why?)
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This document was uploaded on 11/03/2011 for the course BIO bsc2011 at FSU.

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2011 Slide Set VIII - UNIT II SLIDE SET VIII II Pedigree analysis A Symbols B Analyzing modes of inheritance using pedigrees C Examples III Human

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