Cystic fibrosis. Part II. New developments in cystic fibrosis--implications for carrier detection and genetic counselling

M Denter; M Ramsay; T Jenkins

Cystic fibrosis. Part II. New developments in cystic fibrosis--implications for carrier detection and genetic counselling

S Afr Med J. 1992 Jul;82(1):11-3.

Authors

M Denter¹, M Ramsay, T Jenkins

Affiliation

¹ Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of the Witwatersrand, Johannesburg.

PMID: 1641710

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Cystic Fibrosis / diagnosis*
Cystic Fibrosis / genetics
Female
Genetic Carrier Screening*
Genetic Counseling*
Humans
Male
Pedigree