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Cystic fibrosis mutations in Israeli Arab patients

✍ Scribed by Ayala Laufer-Cahana; Israela Lerer; Michal Sagi; Tamar Rachmilewitz-Minei; Chen Zamir; Jacob R. Rivlin; Dvorah Abeliovich

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
45 KB
Volume
14
Category
Article
ISSN
1059-7794

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✦ Synopsis

Mutation analysis was performed on 42 unrelated Israeli Arab CF patients. The previously known mutations in this population, βˆ† βˆ†F508, 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 βˆ† βˆ†F508, 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.

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