Which of the following statements is true of autosomal recessive disorders?
A) Onset is typically late in childhood or early in adulthood.
B) Symptomatology is less uniform than with autosomal dominant disorders.
C) Mitochondrial DNA is normally the site of genetic alteration.
D) Effects are typically the result of alterations in enzyme function.
Ans: D
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With autosomal recessive disorders, the age of onset is frequently early in life; the symptomatology tends to be more uniform than with autosomal dominant disorders; and the disorders are characteristically caused by loss-of-function mutations, many of which impair or eliminate the function of an enzyme. Mutations typically occur in nuclear, rather than mitochondrial, DNA.
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