Cystic fibrosis gene analysis: recent diagnostic applications

Cystic fibrosis (CF) is the most common severe genetic disease of Caucasians. Recent work by several laboratories has resulted in the identification of the CF gene and its major mutation. These findings have greatly facilitated carrier detection and prenatal diagnosis for members of families with a history of CF. This review briefly considers the historical background of CF testing, the basic features of the CF gene, and the methodologies for CF gene analysis. Examples of the application of recent technologies for analysis of CF families are discussed. In addition to family analysis, CF carrier detection in the general population is becoming more feasible. The possibility of carrier screening for CF has been the topic of much discussion recently with arguments presented both for and against. Some basic issues pertaining to population testing are presented.