Article
Cystic fibrosis. Part I. Frequency of the delta F508 mutation in South African families with cystic fibrosis.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 1 Jul 1992
Denter M, Ramsay M, Jenkins T
Abstract excerpt
Cystic fibrosis (CF) is a common autosomal recessive disorder among people of European origin. With the localisation of the gene locus to chromosome 7q31 and the identification of closely linked polymorphic markers in 1985, it became possible to offer prenatal testing to couples at risk of having CF children, provided a live affected individual from that family was available for investigation. The CF gene, named...
Topics
- Amniocentesis
- Blotting, Southern
- Chorionic Villi Sampling
- Cystic Fibrosis
- DNA Mutational Analysis
- Female
- Genetics, Population
- Haplotypes
- Humans
- Mutation
- Polymerase Chain Reaction