One consequence of an individual who has compound heterozygosity at the CFTR locus is
A)if the individual has children all the children will be affected
B)the parents will most likely have CF as well
C)the condition will be more difficult to diagnose
D)any drug that might effectively treat one allele will probably not affect another

Question

Quizplus · Accepted Answer

Compound heterozygosity means that an individual has two different mutated alleles on the two copies of the CFTR gene. This can result in a more severe form of cystic fibrosis, as each different allele may have different effects on the function of the CFTR protein. As a result, drugs that target one specific mutation may not work for the other mutation, making treatment more difficult. The other options are not necessarily true – having compound heterozygosity does not necessarily mean that all children will be affected, the parents may or may not have CF, and the condition can still be diagnosed through genetic testing.

One Consequence of an Individual Who Has Compound Heterozygosity at the CFTR