title: Prevalence of cystic fibrosis mutations in Israeli Jews.
abstract: The aim of this study was to evaluate the screening policies of cystic fibrosis (CF) in the Jewish population. The prevalence of mutations that account for CF in Israel have been defined in the past by determining the frequency of CF mutations in affected individuals. This study is a population-based study and is, therefore, different from previous patient-based studies. We found that the CF mutations D1152H, W1089X, and 405 + IG-->A were present in some ethnic groups in which no CF patients carrying these mutations were reported. These facts necessitate a reevaluation of the screening policy regarding the ethnic groups in Israel. We studied 9,430 healthy Jewish Israeli 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; 110 (29.4%) found to carry delF508; 23 (6.1%) who carried G542X; 22 (5.9%) who carried 3849 + 10Kb (C-->T; 20 (5.3%) who carried D1152H; 10 (2.7%) who carried N1303K; 11 (2.9%) who carried 405 + IG-->A; 4 (1.1%) who carried 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 7,383, 1,558, and 41 individuals, respectively.
authors.affiliation: Transplantation Division, Biomolecular Section, CF Screening Unit, Sheba Medical Center, Tel Hashomer, Israel. sorgad@yahoo.com
authors.forename: S
authors.initials: S
authors.lastname: Orgad
authors.forename: S
authors.initials: S
authors.lastname: Neumann
authors.forename: R
authors.initials: R
authors.lastname: Loewenthal
authors.forename: I
authors.initials: I
authors.lastname: Netanelov-Shapira
authors.forename: E
authors.initials: E
authors.lastname: Gazit
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007585:Jews / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D015995:Prevalence
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator