Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran

نویسندگان

  • Amin Raazi Clinic of Cystic Fibrosis, Mashhad University of Medical Sciences, Mashhad, Iran
  • Azam Brook Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
  • Hamid Reza Kianifar Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran
  • Jalil Tavakol Afshari Bu-Ali Research Institute, Department of Immunogenetic & Tissue Cultlure, Mashhad University of Medical Sciences, Mashhad, Iran
  • Mohammad Keramatipour Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
  • Saeid Talebi Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
چکیده مقاله:

 Objective(s):  More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and Methods: A total number of 56 documented CF patients participated in this study. Peripheral blood was obtained and DNA extraction was done by the use of routin methods. Three steps were taken for determining the target mutations: ARMS-PCR was performed for common CFTR mutations based on previous reports in Iran and neighboring countries. PCR-RFLP was done for detection of R344W and R347P, and PCR-Sequencing was performed for exon 11 in patients with unidentified mutation throughout previous steps. Samples which remained still unknown for a CFTR mutation were sequenced for exon 12.   Results: Among 112 alleles, 24 mutated alleles (21.42%) were detected: ΔF508 (10.71%), 1677delTA (3.57%), S466X (3.57%), N1303K (0.89%), G542X (0.89%), R344W (0.89%), L467F (0.89%). Eight out of 56 individuals analyzed, were confirmed as homozygous and eight samples showed heterozygous status. No mutations were detected in exon 12 of sequenced samples. Conclusion:Current findings suggest a selected package of CFTR mutations for prenatal, neonatal and carrier screening along with diagnosis and genetic counseling programs in CF patients of Khorasan.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

analysis of cftr gene mutations in children with cystic fibrosis, first report from north-east of iran

objective(s):  more than 1500 registered mutations in cystic fibrosis transmembrane regulator (cftr) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (cf). this study was performed to investigate the frequency of a number of well-known cftr mutations in north eastern iranian cf patients. material and m...

متن کامل

Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran

Background: Cystic fibrosis (CF) is the most common lethal genetic disorder of Cystic Fibrosis Trans-membrane Conductance (CFTR) Regulator gene mutations. We aimed to investigate common mutations in CF patients and to assess its possible relationship with clinical presentations. Materials and Methods: This cross sectional study was conducted on 36 CF patients who were referred to a tertiary ped...

متن کامل

(revitalizing silk road corridor in the region (north east of iran

introruction khawf in(iran)-herat and mazaresharif and shirkhan bandar in (afghanistan)-dushanbe in (tajikistan)_(kirgizstan)-kashghar in(china) project railway network is under construction that it is as a significant corridor for revitalizing silk road corridor in the region .at the present there are three different gauge in the region central asia with 1,520 mm gauge and turkey-islamic repu...

15 صفحه اول

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis

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 extractio...

متن کامل

the molecular analysis of mutations in exons 4, 11 and 21 of the cystic fibrosis transmembrane conductance regulator (cftr) gene in cystic fibrosis patients in kermanshah, iran

introduction: cystic fibrosis (cf) is a common genetic disorder in white populations with an autosomal recessive pattern, caused by mutations in the cftr gene. the frequency of more than 1950 various mutations reported in the cftr gene significantly varies in different populations. ∆f508 is a common mutation in exon 10, which is first addressed in the molecular analysis of the disease. other ex...

متن کامل

منابع من

با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ذخیره در منابع من قبلا به منابع من ذحیره شده

{@ msg_add @}


عنوان ژورنال

دوره 16  شماره 8

صفحات  917- 921

تاریخ انتشار 2013-08-01

با دنبال کردن یک ژورنال هنگامی که شماره جدید این ژورنال منتشر می شود به شما از طریق ایمیل اطلاع داده می شود.

میزبانی شده توسط پلتفرم ابری doprax.com

copyright © 2015-2023