Mutational spectrum of cystic fibrosis in the Lebanese population
Mutational spectrum of cystic fibrosis in the Lebanese population
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DOI：
10.1016/j.jcf.2010.08.001
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发表时间：
2010-12-01
影响因子：
5.2
通讯作者：
Cabet, Faiza
中科院分区：
文献类型：
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作者：
Farra, Chantal;Menassa, Rita;Cabet, Faiza
囊性纤维化（CF）是白种人中最常见的常染色体隐性遗传病，然而，在阿拉伯人群中被认为是罕见的。来自阿拉伯人，特别是黎巴嫩人群的囊性纤维化跨膜调节因子（CFTR）突变的报道有限。结果共检测到11种CFTR基因突变，其中F508 del突变最多，占34%，N1303 K（27%）、W1282 X（7%）和S4 X（7%）。在黎巴嫩人群中鉴定了5种以前未报道的突变，它们是S549 N、G542 X、2043 deIG 4016 insG、R117H-7结论除了5个以前在黎巴嫩人群中没有描述的突变外，还发现了最常见的CFTR突变。黎巴嫩人口是重要的分子调查和遗传咨询（C）2010年欧洲囊性纤维化协会出版的爱思唯尔B V保留所有权利
Background Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians it is however, considered to be rare in the Arab populations Reports of the cystic fibrosis transmembrane regulator (CFTR) mutations from Arabs, especially from the Lebanese population, are limitedMethods Twenty-two unrelated Lebanese families with at least one child with CF, were studied DNA extracts from blood samples of patients and parents were screened for CFTR gene mutationsResults Eleven different mutations were identified Of the 44 alleles studied, the most common mutations were F508del (34%), N1303K (27%), W1282X (7%), and S4X (7%) Five mutations not previously reported in the Lebanese population were identified, these are S549N, G542X, 2043deIG 4016insG, and R117H-7TConclusions The most common CFTR mutations in addition to five mutations not previously described in the Lebanese population were identified Identification of CFTR mutations in the Lebanese population is important for molecular investigations and genetic counseling (C) 2010 European Cystic Fibrosis Society Published by Elsevier B V All rights reserved