این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Iranian Journal of Basic Medical Sciences، جلد ۱۶، شماره ۸، صفحات ۹۱۷-۹۲۱
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran
چکیده انگلیسی 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.
کلیدواژه‌های انگلیسی مقاله CFTR Cystic Fibrosis Mutation Sequencing PCR
نویسندگان مقاله عطیه مهدی زاده حکاک | atieh mehdizadeh hakkak
1clinic of cystic fibrosis, mashhad university of medical sciences, mashhad, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)

محمد کرامتی پور | mohammad keramatipour
department of medical genetics, tehran university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

سعید طالبی | saeid talebi
department of medical genetics, tehran university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

اعظم بروک | azam brook
department of medical genetics, tehran university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

جلیل توکل افشاری | jalil tavakol afshari
bu-ali research institute, department of immunogenetic amp;amp; tissue cultlure, mashhad university of medical sciences, mashhad, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)

امین رضی | amin raazi
clinic of cystic fibrosis, mashhad university of medical sciences, mashhad, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)

حمیدرضا کیانی فر | hamid reza kianifar
department of pediatrics, mashhad university of medical sciences, mashhad, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)

نشانی اینترنتی http://ijbms.mums.ac.ir/article_1350.html
فایل مقاله فایلی برای مقاله ذخیره نشده است
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات