Molecular analysis of exon 13 of cystic fibrosis patients in Middle East: High frequency of K710X mutation

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• 作者：Nasibeh Karimi^a ; ^{Nasibe.karimi23@gmail.com} ; Reza Alibakhshi^b ; ^{ralibakhshi@kums.ac.ir}
• 关键词：CFTR ; Cystic fibrosis ; K710X ; Iran ; Middle East
• 刊名：Meta Gene
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：11
• 期：Complete
• 页码：123-126
• 全文大小：436 K
• 卷排序：11

文摘

Cystic Fibrosis (CF) is a severe genetic disorder with autosomal recessive pattern in Caucasian population that is the result of dysfunction in chloride channel. Information about the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations is a crucial prerequisite for screening programs. Most studies on CFTR mutations, conducted in Asia, have focused on European mutations and confirmed various distribution of mutation in Asia, compared to other continents. Since Iran has a heterogeneous population, it is necessary to determine the distribution of CFTR mutation in different ethnics. Exon 13 is one of the most important exons in CFTR gene that carries many potential mutations. The present study was designed to determine the mutation distribution of this exon in Kermanshah Province, Iran.Material and methodsTwenty seven patients (aged between 2 months to 19 years old) were examined and their blood samples were taken. After the extraction of DNA from the peripheral blood, the samples were subjected to mutation detection in exon 13 of CFTR gene by direct DNA sequencing.ResultsK710X mutation with a frequency of 12.96% was identified in the samples, which was in homozygous state in two patients and heterozygous in three remaining patients.ConclusionsThe findings indicated a founder effect for K710X in the Middle East and can be helpful in prenatal diagnosis, screening programs and genetic counseling in Iran.