Article
A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype.
Human genetics - 1 Aug 1997
Hergersberg M, Balakrishnan J, Bettecken T, Chevalier-Porst F, Brägger C, Burger R, Einschenk I, Liechti-Gallati S, Morris M, Schorderet D, Thonney F, Moser H, Malik N
Abstract excerpt
We have analysed 1173 cystic fibrosis (CF) chromosomes from Switzerland for eight mutations in the CF transmembrane conductance regulator (CFTR) gene. This permitted the identification of 88.5% of all mutations present. A novel insertion mutation in exon 20 of the CFTR gene, 3905insT, was discove...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Primers
- Founder Effect
- Gene Frequency
- Genetic Testing
- Humans
- Mutation
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Switzerland