Consider the disease phenylketonuria (PKU), which is an autosomal recessive defect in the enzyme phenylalanine hydroxylase. The absence of the enzyme prevents phenylalanine from being metabolized causing unusually high levels of phenylalanine in the body leading to severe mental retardation. The selection coefficient for the recessive homozygous individuals is 0.7 and the frequency of the recessive allele in the population is 1.0 x 10-2.  If PKU is maintained by mutation-selection balance what is the predicted mutation rate?  The actual mutation rate is 1 X 10-4. What other mechanism might be affecting the allele frequency?

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Mitochondrial Mutations

A mitochondrion is a cellular organelle that serves as the site for cellular respiration and energy production (ATP or Adenosine Triphosphate). It is a double-membrane-bound organelle and is only present in eukaryotic cells.