Question

Which single-gene disorder is detected through identification of mutations in the CFTR gene via amniocentesis?

Options

• Cystic fibrosis

• Fragile X syndrome

• Phenylketonuria

• Sickle cell anemia

Answer 1

Cystic fibrosis is a single-gene disorder caused by mutations in the CFTR gene. Amniocentesis can detect this condition through genetic analysis of fetal cells cultured from amniotic fluid, enabling early diagnosis in at-risk pregnancies.