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Iranian Biomedical Journal، جلد ۲۰، شماره ۴، صفحات ۲۰۱-۲۰۶
عنوان فارسی Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis
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عنوان انگلیسی Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis
چکیده انگلیسی مقاله Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extraction using the salting out method, a mutation panel consisting of 35 common mutations was tested by PCR, followed by reverse hybridization Strip Assay. To confirm the mutations, we have also performed Sanger sequencing for all 27 exons, intronic flanking regions, and 5' and 3' UTRs of the CFTR gene. Results: Carrier testing in a spouse revealed a novel nonsense mutation in the CFTR gene (c.2777 T>A (p.L926X)) in exon 17 for husband and a previously described heterozygous splice site pathogenic mutation (c.1393-1G>A) in his wife. The other novel compound heterozygous missense mutation (c.3119 T>A (p.L1040H)), which was previously reported as nonsense c.3484C>T (p.R1162X) mutation, was found in exon 19 in patient screening. Conclusion: Two novel CFTR mutations in exons 17 and 19 are responsible for CF with severe phenotypes in two Iranian families. These two mutations supplement the mutation spectrum of CFTR and may contribute to a better understanding of CFTR protein function.
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نویسندگان مقاله مرضیه محسنی | marzieh mohseni


محمد razzaghmanesh | mohammad razzaghmanesh


الهام پارسی مهر | elham parsi mehr


هانیه زارع | hanieh zare


مریم بهشتیان | maryam beheshtian


حسین نجم آبادی | hossein najmabadi


نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-602&slc_lang=en&sid=en
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زبان مقاله منتشر شده fa
موضوعات مقاله منتشر شده Molecular Genetics & Genomics
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