Iranian Biomedical Journal
مجله بیومدیکال ایران
IBJ
Basic Sciences
http://ibj.pasteur.ac.ir
1
admin
1028-852X
2008-823X
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10.61186/ibj
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8888
-
en
jalali
1395
6
1
gregorian
2016
9
1
20
4
online
1
fulltext
en
Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis
Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis
Molecular Genetics & Genomics
Molecular Genetics & Genomics
مقاله کامل
Full Length/Original Article
<p style="direction: ltr; "><strong>Background: </strong>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 (<em>CFTR</em>) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the <em>CFTR </em>gene in two Iranian families with CF. <strong>Methods:</strong> 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 <em>CFTR</em> gene. <strong>Results:</strong> Carrier testing in a spouse revealed a novel nonsense mutation in the <em>CFTR</em> 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. <strong>Conclusion:</strong> Two novel <em>CFTR</em> 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 <em>CFTR</em> and may contribute to a better understanding of CFTR protein function.</p>
Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator protein, Mutation, Sequence analysis, Iran
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http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-602&slc_lang=en&sid=1
Marzieh
Mohseni
100319475328460055711
100319475328460055711
No
Mohammad
Razzaghmanesh
100319475328460055712
100319475328460055712
No
Elham
Parsi Mehr
100319475328460055713
100319475328460055713
No
Hanieh
Zare
100319475328460055714
100319475328460055714
No
Maryam
Beheshtian
100319475328460055715
100319475328460055715
No
Hossein
Najmabadi
hnajm12@yahoo.com
100319475328460055716
100319475328460055716
Yes