Concept explainers
The estimation of allele probabilities is essential for the closer quantitative identification of inheritance. It requires the probabilistic formulation of the applied model of inheritance. The hereditary disease phenylketonuria (PKU) is a useful example. PKU follows a recessive form of inheritance. Suppose there are two alleles at a gene locus denoted by a and A where the possible genotypes are (aa), (aA), and (AA). An individual will only be affected if the genotype aa appears (i.e., a recessive form of inheritance).
Suppose that on a population level it is impossible to genotype large numbers of individuals. However, it is known that among 10,000 people surveyed in the population, 11 have the PKU clinical phenotype.
Provide a point estimate and 95% CI for the a allele frequency p.
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Fundamentals of Biostatistics
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