报道两个伊朗囊性纤维化家族的两个新突变,分子和生物信息学分析

Q2 Biochemistry, Genetics and Molecular Biology
Amin Hosseini Nami, Mahboubeh Kabiri, Sirous Zeinali
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引用次数: 0

摘要

背景:囊性纤维化(CF)是高加索人群中最常见的遗传性疾病。囊性纤维化跨膜传导调节(CFTR)基因(NM_000492.4)中超过350种已知的致病变异导致CF。在此,我们报告了我们对两个无血缘关系的伊朗CF患者家庭的调查结果。方法:通过表型检查、分离、连锁分析和CFTR基因测序来确定致病突变。结果:我们在本研究中发现了两个新的突变。第一个是导致移码的缺失,c.299delT p.(Leu100Profs*7),第二个是CFTR蛋白核苷酸结合域1的错义突变,c.1857G>T。单倍型分离数据支持我们新的突变发现。结论:本研究结果扩大了CFTR致病变异谱,可改善CF的产前诊断和遗传咨询。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis

Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis

Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis

Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis

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.

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来源期刊
Iranian Biomedical Journal
Iranian Biomedical Journal Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (all)
CiteScore
3.20
自引率
0.00%
发文量
42
审稿时长
8 weeks
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