BIOL 205 Lecture Notes - Lecture 3: Pseudoachondroplasia, Cystic Fibrosis, Haploinsufficiency
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These are analogous to f1 monohybrid cross and the offspring are 4 peas in a pod. The more families you count, the 3:1 ratio becomes apparent. Generally, the disorder appears in the progeny of unaffected parent. The affected progeny include both male and females. Inbreeding increases the exposure to these recessive alleles, and increase the likelihood of the homozygous recessive genotype. *** certain pedigrees may appear as recessive dominant, but could be recessive if the allele is common enough. The phenotype tends to appear in every generation of the pedigree. Affected fathers or mothers transmit their phenotype to both sons and daughters. Behaves similar to the mouse t box mutation. Piebald, polydactyly, and huntinson"s disease also autosomal dominant. But the nature of the dominant mutation is different from dominant mutations due to haploinsufficient gene. Ability to taste the chemical phenylthiocarbamide (cilantro) In natural populations of organisms, a polymorphism is the coexistence of two or more common phenotypes.