ABCMdb

PMID: 24696795

Sahami A, Alibakhshi R, Ghadiri K, Sadeghi H
Mutation Analysis of Exons 10 and 17a of CFTR Gene in Patients with Cystic Fibrosis in Kermanshah Province, Western Iran.
J Reprod Infertil. 2014 Jan;15(1):49-56., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Ser466* ABCC7 p.Thr1036Ile The disease-causing mutations were p.F508del (࢞F508) (14.81%), p.S466X (1.85%), and p.T1036I (1.85%). Login to comment 17 ABCC7 p.Ser466* ABCC7 p.Thr1036Ile Keywords: ࢞F508, Cystic fibrosis, Direct sequencing, Iran, Kermanshah, M470V, S466X, T1036I. Login to comment 30 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* In addition to ࢞F508 mutation, these mutations vary greatly in their frequency and distribution, but most of them are very rare. Only four mutations (p.G542X, p.N1303K, p.G551D, and p.W1282X) have overall frequencies greater than 1% (5). Login to comment 61 ABCC7 p.Ser466* For sequencing analysis, samples were analyzed by direct sequencing of exon10 and (p.F508del/ p.F508del) p.F508del(Heterozygous) S466X (heterozygous) M470V polymorphism (1540A>G). Login to comment 62 ABCC7 p.Thr1036Ile T1036I mutation (C to T at 3239) . Login to comment 72 ABCC7 p.Ser466* ABCC7 p.Thr1036Ile Genotype analysis: Mutation screening of CFTR gene in 54 alleles by sequencing reaction for all common mutations (exon 10 and exon 17a) showed that 10 alleles were ƊF508 (14.81%), S466X (1.85%) and T1036I (1.85%) and also showed 40 alleles (74.1%) with M470V polymorphism. Login to comment 73 ABCC7 p.Ser466* Five patients were heterozygous for ƊF508, one patient was homozygous for ƊF508 and one patient was a compound heterozygous (ƊF508/S466X) (Table 2, Figure 1). Login to comment 82 ABCC7 p.Ser466* ABCC7 p.Thr1036Ile of Patients Global distribution Homozygote Heterozygote Exon 10 Deletion of CTT from 16533 p.F508del 1 6 Global Exon 10 C to G at 1529 p.S466X - 1 Germany-Iran Exon17a C to T at 3239 p.T1036I - 1 Iran Table 3. Login to comment 83 ABCC7 p.Ser466* ABCC7 p.Thr1036Ile Comparison of the frequency of common CFTR mutations (%) in the present study, west Asia, north Africa and Indian subcontinent Region or Country Frequency of CF alleles (%) F508del S466x T1036I This study 14.81 1.85 1.85 Lebanon 34-37 - - Palestine 23.5 - - Jordan 7.4-12 - - Syria 1 patient - - Saudi Arabia, United Arab Emirates, Oman, Qatar, Kuwait 12 - - Saudi Arabia 13-15 - - Algeria 16.7 - - Bahrain 7.7 - - Turkey 24-27 * - Pakistan 17-56 - - Tunisia 18 - - Indian 19-40 * - * Some reports about this mutation (S466X) in Italy's northeast, France's northwest, Turkey, Greece and India This is the first time that such a study is done for Kurdish people in Islamic Republic of Iran. Login to comment 104 ABCC7 p.Ser466* S466X mutation: This mutation is the most widespread one among Iran's proportional mutations and in contrast to other reported mutations has remarkable percentage in the country. Login to comment 108 ABCC7 p.Ser466* In previous studies, in the common wealth of independent states (CIS), the mutation of S466X with ࢞F508 in the form of compound heterozygous was determined. Login to comment 111 ABCC7 p.Ser466* S466X mutation with homozygote genotype was previously reported in Tehran, Khorasan, Hamedan and Markazi provinces. Login to comment 115 ABCC7 p.Thr1036Ile ABCC7 p.Thr1036Ile T1036I mutations: In exon 17a, T1036I mutation is reported as a heterozygote for the second time in the world. Login to comment 118 ABCC7 p.Ser466* ABCC7 p.Ser466* Comparison of the frequency of common CFTR mutations, ƊF508 and S466X in Iran Frequency ࢞F508 (%) Frequency S466X (%) Alibakhshi et al. (2006) 18.1 5.8 Elahi et al. (2006) 16 1.66 The present study (2012) 14.81 1.85 Asian cultures. Login to comment 120 ABCC7 p.Thr1036Ile The frequency of T1036I mutation (C to T at 3239) was 1.85% in this study and it was involved with just one patient (Figure1 and Table 2). Login to comment 137 ABCC7 p.Ser466* ABCC7 p.Thr1036Ile Conclusion Frequency of ƊF508, S466X and T1036I mutations in this study are quite comparable to similar studies in Iran and neighboring regions. Login to comment