Article
Difference in frequencies of the cystic fibrosis alleles, delta F508 and W1282X, between carriers and patients.
European journal of human genetics : EJHG - 1 Jan 1994
Kalman Y M, Kerem E, Darvasi A, DeMarchi J, Kerem B
Abstract excerpt
One major mutation, delta F508, causing cystic fibrosis (CF) is found in most populations around the world. Among CF patients of Jewish Ashkenazi origin two major mutations, W1282X and delta F508 were found. We compared the relative frequencies of the two major mutations found in this patient population to their relative frequencies in the healthy population. The studied patient population included the entire CF...
Topics
- Adult
- Alleles
- Bias
- Child
- Cystic Fibrosis
- Gene Frequency
- Genetic Carrier Screening
- Genotype
- Heterozygote
- Homozygote
- Humans
- Israel