title: Cystic fibrosis mutations in Israeli Arab patients.
abstract: Mutation analysis was performed on 42 unrelated Israeli Arab CF patients. The previously known mutations in this population, DF508, N1303K, G542X, 4010delTATT, and S549R(T>G), were identified in 57 CF alleles, leaving 28 CF alleles with unknown mutations. Screening of the coding sequence of the CFTR gene by a single strand conformation analysis (SSCA) and direct sequencing revealed three point mutations and two intragenic deletions, including 2183AA>G, R75X, S549R (A>C), 3120+1Kbdel8.6Kb and del(exon2). In the present sample of Israeli Arab patients, 12 mutations account for 92% of the CF alleles. The mutations DF508, N1303K, W1282X and 3120+1Kbdel8.6Kb were found in all Arab ethnic subgroups. The mutations G85E, R75X, 2183AA>G, and del(exon2) were confined to Muslim Arabs, and the mutations 4010delTATT, S549R(A>C) and G542X were confined to Christian Arabs. Hum Mutat 14:543, 1999.
authors.affiliation: Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Laufer-Cahana
authors.forename: I
authors.initials: I
authors.lastname: Lerer
authors.forename: M
authors.initials: M
authors.lastname: Sagi
authors.forename: T
authors.initials: T
authors.lastname: Rachmilewitz-Minei
authors.forename: C
authors.initials: C
authors.lastname: Zamir
authors.forename: J R
authors.initials: JR
authors.lastname: Rivlin
authors.forename: D
authors.initials: D
authors.lastname: Abeliovich
mesh_terms: D018912:Arabs / Q000235:genetics*; D015139:Blotting, Southern; D002835:Christianity; D003550:Cystic Fibrosis / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D007514:Islam; D007557:Israel / Q000208:ethnology; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational