Article
Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.
Human genetics - 1 Apr 1993
Dorval I, Odent S, Jezequel P, Journel H, Chauvel B, Dabadie A, Roussey M, Le Gall J Y, Le Marec B, David V
Abstract excerpt
The cystic fibrosis (CF) gene has been cloned and a major mutation identified (delta F508). This 3-bp deletion has been found in approximately 70% of CF chromosomes. We have used the strategy of denaturing gradient gel electrophoresis followed by direct sequencing of the polymerase chain reaction...
Topics
- Adolescent
- Base Sequence
- Chromosomes, Human
- Cystic Fibrosis
- DNA, Single-Stranded
- Exons
- Humans
- Infant
- Molecular Sequence Data
- Mutation
- Polymorphism, Restriction Fragment Length