There are many mutations that cause cystic fibrosis, however, only a f
ew account for the majority of the cases. This article provides a revi
ew of the molecular genetics of cystic fibrosis. A low cost technique
for detection of the most common mutations is described. Emphasis is p
laced on the appropriate applications and interpretations in the use o
f molecular diagnostics for the diagnosis, carrier detection, and trea
tment of cystic fibrosis. Emerging treatment possibilities, including
gene therapy, are discussed.