A child is diagnosed with cystic fibrosis. History reveals that the child's parents are siblings. Cystic fibrosis was most likely the result of:
a. X-inactivation.
b. genomic imprinting.
c. consanguinity.
d. obligate carriers.
ANS: C
Consanguinity refers to the mating of two related individuals, and the offspring of such matings are said to be inbred. Consanguineous matings produce a significant increase in recessive disor-ders and are seen most often in pedigrees for rare recessive disorders. X-inactivation occurs when one X chromosome in the somatic cells of females is permanently inactivated. Genomic imprint-ing is related to methylation and other changes. Obligate carriers are those who have an affected parent and affected children and, therefore, must themselves carry the mutation.
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