Cystic fibrosis. Part II. New developments in cystic fibrosis--implications for carrier detection and genetic counselling.
Cystic fibrosis (CF) is an autosomal recessive disorder found predominantly in people of European origin. Prenatal diagnosis for this disorder is now possible using the polymerase chain reaction technique to detect the most common CF-causing mutation, delta F508. Case studies of prenatal diagnosis and carrier detection are presented and some of the genetic counselling issues related to these investigations are discussed.
Denter
M
M
Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of the Witwatersrand, Johannesburg.
Ramsay
M
M
Jenkins
T
T
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree