ورود
مقالات فارسیISIکنفرانسهاژورنالها

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

محل انتشار: مجله علوم پایه پزشکی ایران، دوره: 16، شماره: 8
سال انتشار: 1392
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 228

فایل این مقاله در 5 صفحه با فرمت PDF قابل دریافت می باشد

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این مقاله:
https://civilica.com/doc/1297951

شناسه ملی سند علمی:

JR_IJBMS-16-8_006

تاریخ نمایه سازی: 4 آبان 1400

چکیده مقاله:

 Objective(s):  More than ۱۵۰۰ 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 ۵۶ 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 R۳۴۴W and R۳۴۷P, and PCR-Sequencing was performed for exon ۱۱ in patients with unidentified mutation throughout previous steps. Samples which remained still unknown for a CFTR mutation were sequenced for exon ۱۲.   Results: Among ۱۱۲ alleles, ۲۴ mutated alleles (۲۱.۴۲%) were detected: ΔF۵۰۸ (۱۰.۷۱%), ۱۶۷۷delTA (۳.۵۷%), S۴۶۶X (۳.۵۷%), N۱۳۰۳K (۰.۸۹%), G۵۴۲X (۰.۸۹%), R۳۴۴W (۰.۸۹%), L۴۶۷F (۰.۸۹%). Eight out of ۵۶ individuals analyzed, were confirmed as homozygous and eight samples showed heterozygous status. No mutations were detected in exon ۱۲ 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.

کلیدواژه ها:

CFTR Cystic Fibrosis Mutation Sequencing PCR

نویسندگان

Atieh Mehdizadeh Hakkak

۱Clinic of Cystic Fibrosis, 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

Azam Brook

Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran

Jalil Tavakol Afshari

Bu-Ali Research Institute, Department of Immunogenetic & Tissue Cultlure, Mashhad University of Medical Sciences, Mashhad, Iran

Amin Raazi

Clinic of Cystic Fibrosis, Mashhad University of Medical Sciences, Mashhad, Iran

Hamid Reza Kianifar

Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran

مراجع و منابع این مقاله:

لیست زیر مراجع و منابع استفاده شده در این مقاله را نمایش می دهد. این مراجع به صورت کاملا ماشینی و بر اساس هوش مصنوعی استخراج شده اند و لذا ممکن است دارای اشکالاتی باشند که به مرور زمان دقت استخراج این محتوا افزایش می یابد. مراجعی که مقالات مربوط به آنها در سیویلیکا نمایه شده و پیدا شده اند، به خود مقاله لینک شده اند :
  • Knowles MR, Durie PR. What is cystic fibrosis? N Engl ...
  • Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, ...
  • Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, ...
  • McCarthy VA, Harris A. The CFTR gene and regulation of ...
  • Zielenski J, Rozmahel R, Bozon D. Genomic DNA sequence of ...
  • Bear CE, Li CH, Kartner N, Bridges RJ, Jensen TJ, ...
  • Zielenski J, Tsui L. Cystic fibrosis: Genotypic and phenotypic variations. ...
  • Cystic Fibrosis Mutation Database. Available at: http://www.genet.sickkids.on.۲۰ca/cftr/ ...
  • Estivill X, Bancells C, Ramos C. Geographic distribution and regional ...
  • Dawson KP, Frossard PM. The geographic distribution of cystic fibrosis ...
  • Vankeerberghen A, Cuppens H, Cassiman JJ. The cystic fibrosis transmembrane ...
  • Slieker MG, Sanders EAM, Rijkers GT, Ruven HJT, van der ...
  • Alibakhshi R, Kianashirazi R, Jean-Jasques C, Zamani M, Cuppens H. ...
  • Elahi E, Khodadad A, Kupershmidt I, Ghasemi F, Alinasab B, ...
  • Jalalirad M, Houshmand M, Mirfakhraie R, Goharbari MH, Mirzajani F. ...
  • Esmaeili MR, Akhavan H, Ghabeli A. Detecting common CFTR mutations ...
  • Ferrie RM, Schwartz MJ, Robertson NH, Vaudin S, Super M, ...
  • Guilloud-Bataille M, Crozes DD, Rault G, Degioanni A, Feingold J. ...
  • Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, ...
  • Scotet V, Gillet D, Dugue´pe´roux I, Audrezet MP, Bellis G, ...
  • Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I. ...
  • Eskandarani HA. Cystic fibrosis transmembrane regulator gene mutations in Bahrain. ...
  • Shah U, Moatter T, Bhutta ZA. Profile and factors determining ...
  • Rawashdeh M, Manal H. Cystic fibrosis in Arabs: a prototype ...
  • Deufel A, Deufel T, Golla A, Achatz H, Bertele-Harms R, ...
  • Radivojevic D, Djurisic M, Lalic T, Guc-Scekic M, Savic J, ...
  • Knezević J, Tanacković G, Matijević T, Barisić I, Pavelić J. ...
  • Alibakhshi R, Zamani M. Mutation analysis of CFTR gene in ...
  • Farra C, Menassa R, Awwad J, Morel Y, Salameh P, ...
  • Loumi O, Ferec C, Mercier B, Creff J, Fercot B, ...
  • Hadj Fredj S, Fattoum S, Chabchoub A, Messaoud T. First ...
  • Fredj SH, Messaoud T, Templin C, des Georges M, Fattoum ...
  • Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, ...
  • Kostuch M, Klatka J, Semczuk A, Wojcierowski J, Kulczycki L, ...
  • Frenţescu L, Brownsell E, Hinks J, Malone G, Shaw H, ...
  • Venegas PB, Novak JM, Oscar CA, Sánchez FL, Gutiérrez IG, ...
  • Collazo T, Bofill AM, Clark Y, Hernández Y, Gómez M, ...
  • Cemlyn-Jones J, Gamboa F. Proteinuria in cystic fibrosis: a possible ...
    • نمایش کامل مراجع