An Example of a Genetic Disorder in Humans That Results

Question

An example of a genetic disorder in humans that results from a loss-of-function mutation is:
A)cystic fibrosis.
B)achondroplasia.
C)Huntington disease.
D)myotonic dystrophy.
E)None of the answers is correct.

Accepted Answer

Cystic fibrosis is caused by a loss-of-function mutation in the CFTR gene, which codes for a protein involved in ion transport in cells. This mutation leads to the production of a non-functional or decreased amount of CFTR protein, resulting in the accumulation of thick, sticky mucus in various organs such as the lungs, pancreas, and liver.