Prevalence of cystic fibrosis mutations in Israeli Jews

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.