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Iranian Biomedical Journal، جلد ۲۶، شماره ۵، صفحات ۳۹۸-۴۰۵
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چکیده فارسی مقاله
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عنوان انگلیسی Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis
چکیده انگلیسی مقاله Background: Cystic fibrosis (CF) is the most common heredity disease among the Caucasian population. More than 350 known pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (NM_000492.4) cause CF. Herein, we report the outcome of our investigation in two unrelated Iranian families with CF patients.
Methods: We conducted phenotypic examination, segregation, linkage analysis, and CFTR gene sequencing to define causative mutations.
Results: We found two novel mutations in the present study. The first one was a deletion causing frameshift,c.299delT p.(Leu100profs*7), and the second one was a missense mutation, c. 1857G>T., at nucleotide binding domain 1 of the CFTR protein. Haplotype segregation data supported our new mutation findings.
Conclusion: Findings of this study expand the spectrum of CFTR pathogenic variations and can improve prenatal diagnosis and genetic counseling for CF.
کلیدواژه‌های انگلیسی مقاله Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, Genetic linkage, Haplotype, Sequence analysis
نویسندگان مقاله | Amin Hosseini Nami
Department of Biotechnology, College of Sciences, University of Tehran, Tehran, Iran


| Mahboubeh Kabiri
Department of Biotechnology, College of Sciences, University of Tehran, Tehran, Iran


| Sirous Zeinali
Dr. Zeinali’s Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran
نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-4914-1&slc_lang=en&sid=1
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کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Molecular Genetics & Genomics
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