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Lecture 3: Single gene inheritance

Lecture 3: Single gene inheritance. Mutations. Haploinsufficient phenotpyes. Pax 6 mutation. normal. AC absent. Olfactory bulb hypoplasia. Pax 6 mutation phenotype: aniridia , hyposmia. Single gene inheritance in haploids: budding yeast. ascus. Products of meiosis in yeast.

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Lecture 3: Single gene inheritance

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  1. Lecture 3:Single gene inheritance

  2. Mutations

  3. Haploinsufficientphenotpyes Pax 6 mutation normal AC absent Olfactory bulb hypoplasia Pax 6 mutation phenotype: aniridia, hyposmia

  4. Single gene inheritance in haploids:budding yeast ascus

  5. Products of meiosis in yeast

  6. X-linked inheritance

  7. Human X and Y chromosomes Y-chromosome genes?

  8. Pedigree symbols

  9. Autosomal recessive pedigree Mendelian rules apply, but Mendelian ratios are not observed b/c of small sample size Examples: cystic fibrosis, sickle-cell anemia, albinism, Tay-Sachs disease, PKU

  10. Homozygous recessives from inbreeding

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