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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Age structure and the distribution of rare genetic diseases
Abstract:
Equilibrium frequencies of rare deleterious genes in an age-structured population have been studied by using mathematical models. In the models, variable age-of-onset and variable penetrance of a trait have been incorporated. Numerical analyses show that the equilibrium gene frequencies can be approximated extremely well to those in nonoverlapping generations, as Haldane [1927] claimed. This property of rare deleterious genes in an age-structured population is important because population dynamics of such genes in a finite population can be studied easily.
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Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

