HMB265H1 Lecture Notes - Lecture 4: Mendelian Inheritance, Tyrosinase, Zygosity

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12 May 2015
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HMB265H1 Full Course Notes
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HMB265H1 Full Course Notes
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Humans are terrible genetic model organisms since humans are not genetic models, we can follow pedigrees. Observes what is happening in the human population. Not as efficient albinism: tyrosinase enzyme is needed for the proper function = proper pigment. Haplosufficient gene heterozygote one allele is enough for normal skin. Because the abnormal allele carried by a person. Autosomal recessive only homozygous recessive individuals exhibit the affected phenotype. Males and females are equally affected and may transmit the trait. May skip generations cystic fibrosis is a disease inherited according to mendelian rules as an autosomal recessive phenotype. Disease at the age of 40, half the individuals are expected to express the disease. Proves the parents must be heterozygous, and the disease allele is dominant. Autosomal polymorphisms coexistence of two or more common phenotypes of a character dimorphism is the simplest type of polymorphism (two morphs) When two or more clearly different phenotypes exist in the same population of species.

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