Mutational spectrum of cystic fibrosis in the Lebanese population

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• 作者：Chantal Farra ; Rita Menassa ; Johnny Awwad ; Yves Morel ; Pascale Salameh ; Nadine Yazbeck ; Marianne Majdalani ; Rima Wakim ; Khalid Yunis ; Salman Mroueh ; Faiza Cabet
• 关键词：Cystic fibrosis ; Lebanon ; CFTR
• 刊名：Journal of Cystic Fibrosis
• 出版年：2010
• 出版时间：December 2010
• 年：2010
• 卷：9
• 期：6
• 页码：406-410
• 全文大小：195 K

文摘

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 limited.

Methods

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 mutations.

Results

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, 2043delG, 4016insG, and R117H-7T.

Conclusions

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.