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BB lecture 1-30-09 human inheritance, pedigrees

BB lecture 1-30-09 human inheritance, pedigrees - Chapter...

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Chapter 14 (concluding) and Chapter 15 ( REVISED pp289-292; 297-301 ) Learning objectives: • Be able to construct/analyze a pedigree to deduce genotypes. • Know examples of how different human traits and certain disorders are inherited • Explain X-chromosome inactivation • Fetal testing: Distinguish between amniocentesis and chorionic villus sampling
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Making and using pedigrees to discern genotypes Ww ww ww Ww ww Ww Ww ww ww Ww WW or Ww ww First generation (grandparents) Second generation (parents plus aunts and uncles) Third generation (two sisters) Ff Ff ff Ff ff Ff Ff ff Ff FF or Ff ff FF or Ff Widow’s peak No Widow’s peak Attached earlobe Free earlobe (a) Dominant trait (widow’s peak) (b) Recessive trait (attached earlobe)
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Autosomal dominant? Autosomal recessive?
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Autosomal dominant? Autosomal recessive?
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The difference in sexes: The Sex Chromosomes Sex chromosomes: A female has two “X” chromosomes, and thus can carry two alleles of a gene. A male has only one “X” chromosome, and thus only has one allele. The male’s “Y” chromosome is homologous w/ the “X” only at the tips because of its small size compared to the much larger “X” Sex determination comes from the SRY gene located on the Y chromosome A human karyotype of 22 autosomal chromosome pairs, + the pair of sex chromosomes
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Some disorders caused by recessive alleles on the X chromosome in humans: Color blindness Duchenne muscular dystrophy Hemophilia Androgen insensitivity syndrome
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The gene for color vision is on the “X” chromosome. A lack of color vision (aka ‘color-blindness’) is caused by a recessive allele . The following link shows patterns for testing for color vision. http://www.toledo-bend.com/colorblind/Ishihara.html
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Duchenne muscular dystrophy Definition - One of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles.
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  • Spring '08
  • Reichler
  • recessive allele, Androgen insensitivity syndrome, Turner syndrome, chromosome number, Autosomal Recessive

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