Article
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.
American journal of human genetics - 1 Nov 1992
Abeliovich D, Lavon I P, Lerer I, Cohen T, Springer C, Avital A, Cutting G R
Abstract excerpt
To determine the distribution and frequency of cystic fibrosis (CF) mutations in the Israeli population, we have screened 96 patients for 11 relatively common mutations. Five mutations--delta F508, G542X, W1282X, N1303K, and 3849 + 10kb C-->T--were found to account for 97% of the CF alleles in th...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Heterozygote
- Humans
- Israel
- Jews
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides