Prevalence of cystic fibrosis mutations in Israeli Jews

Citation
S. Orgad et al., Prevalence of cystic fibrosis mutations in Israeli Jews, GENET TEST, 5(1), 2001, pp. 47-52
Citations number
16
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
GENETIC TESTING
ISSN journal
1090-6576 → ACNP
Volume
5
Issue
1
Year of publication
2001
Pages
47 - 52
Database
ISI
SICI code
1090-6576(200121)5:1<47:POCFMI>2.0.ZU;2-K
Abstract
The aim of this study was to evaluate the screening policies of cystic fibr osis (CF) in the Jewish population. The prevalence of mutations that accoun t for CF in Israel have been defined in the past by determining the frequen cy of CF mutations in affected individuals. This study is a population-base d study and is, therefore, different from previous patient-based studies. W e found that the CF mutations D1152H, W1089X, and 405 + 1G --> A were prese nt in some ethnic groups in which no CF patients carrying these mutations w ere reported. These facts necessitate a reevaluation of the screening polic y regarding the ethnic groups in Israel. We studied 9,430 healthy Jewish Is raeli individuals of 36 countries of origin. The prevalence of CF mutations was 1:19, 1:19, 1:28, and 1:42 for the Ashkenazi, Sephardi, North African, and Eastern Jews, respectively. CF mutations were identified in 374 (4.0%) individuals. These included 173 (46.3%) carriers of the W1282X mutation; 1 10 (29.4%) found to carry delF508; 23 (6.1%) who carried G542X; 22 (5.9%) w ho carried 3849 + 10Kb (C --> T; 20 (5.3 %) who carried D1152H; 10 (2.7%) w ho carried N1303K; 11 (2.9%) who carried 405 + 1G --> A; 4 (1.1%) who carri ed W1089X; and one (0.3%) who carried S549R, No carriers were detected for the 1717-1G --> A, G85E, and T360K mutations, which were tested for in 7,38 3, 1,558, and 41 individuals, respectively.