en
1726-7536
1735-8507
69
2139
288
gregorian
2014
2
22
15
1
online
1
fulltext
en
24696795
Mutation Analysis of Exons 10 and 17a of CFTR Gene in Patients with Cystic Fibrosis in Kermanshah Province, Western Iran
Background: Cystic fibrosis (CF) is the most common genetic disorder with autosomal recessive inheritance among Caucasian populations. So far, more than 1950 different mutations were identified in cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR gene has 27 exons. The type and distribution of mutations vary widely among different countries and/or ethnic groups. Therefore, a comprehensive analysis was performed on exon10 and exon17a of CFTR gene in CF patients in the Kermanshah province, western Iran.
Methods: We tested 27 patients admitted to the medical genetics laboratory of Kermanshah University of Medical Sciences. The patients were from different cities of Kermanshah province. All the patients had the clinical signals and two positive sweat tests. After filling agreement forms and questionnaire, the peripheral blood sampling and DNA extraction were done. DNA samples were extracted. PCR and sequencing special PCR were done. Finally analysis of the results with DNA sequencing analysis version 5.2 software was performed.
Results: CFTR mutations analysis identified 4 different mutations in our CF patients. The disease-causing mutations were p.F508del (∆F508) (14.81%), p.S466X (1.85%), and p.T1036I (1.85%). M470V polymorphism with frequency of 74.1% was found in 23 patients (17 homozygous and 6 heterozygous).
Conclusion: Three disease-causing mutations in CF patients in the present study account for approximately 18.51% of mutations. The frequency of p.F508del, the most common mutation was 1618.1% in Iranian population. The results of the present study can be applied for genetic counseling, population screening and prenatal diagnosis.
F508∆, Cystic fibrosis, Direct sequencing, Iran, Kermanshah, M470V, S466X, T1036I
49
57
https://www.jri.ir/article/554
https://www.jri.ir/documents/fullpaper/en/554.pdf
AbbasSahamiDepartment of Biology, Faculty of Islamic Azad University, Jahrom Branch, Jahrom, IranAbbasSahami1225
RezaAlibakhshiNano Drug Delivery Research Centre, Kermanshah University of Medical Sciences, Kermanshah, IranRezaAlibakhshiralibakhshi@yahoo.com1231
KeyghobadGhadiriNosocomial Infectious Disease Research Center, Kermanshah University of Medical Sciences, Kermanshah, IranKeyghobadGhadiri1226
HamidSadeghiDepartment of Biology, Faculty of Islamic Azad University, Jahrom Branch, Jahrom, IranHamidSadeghi1227