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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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Haploinsufficientphenotpyes Pax 6 mutation normal AC absent Olfactory bulb hypoplasia Pax 6 mutation phenotype: aniridia, hyposmia
Human X and Y chromosomes Y-chromosome genes?
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