八个国家的阿拉伯人口中的基因变异谱:系统审查
Fatimazahra Smaili1, Khawla Zerrouki1, Fatima Ezzahra Aouni1
1Laboratory of Epidemiology, Clinical Research and Public Health, Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco; Laboratory of Medical Genetics, Central Laboratory, Mohammed VI University Hospital, Oujda, Morocco.
Biomolecules & biomedicine
|February 12, 2026
概括
这篇综述详细介绍了阿拉伯人群中dysferlinopathies的遗传变异,确定了48种独特的DYSF基因突变. 沙特阿拉伯和阿尔及利亚报告了最多的变体,主要与四肢腰带肌肉发育不良有关.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 双线病是一种罕见的自体逆向性肌肉发育不良症,由双线 (DYSF) 基因突变引起.
- 阿拉伯人口的全球流行率和特定突变谱还没有得到很好的定义.
研究的目的:
- 系统地审查和阐明阿拉伯人口中DYSF基因变异的频谱.
- 分析这些变异在不同阿拉伯国家的分布及其相关的临床表型.
主要方法:
- 在主要的科学数据库 (PubMed,ScienceDirect,Scopus,Web of Science) 进行了系统的文献搜索,截至2025年9月15日.
- 关于DYSF变体,它们的位置和相关的表型的数据被提取和分析.
主要成果:
- 在八个阿拉伯国家共发现了48种独特的DYSF变种,其中沙特阿拉伯,阿尔及利亚和埃及报告的数量最高.
- 最常见的表型包括四肢腰带肌肉发育不良,衰退型2 (LGMDR2) 和近距离肌肉病变.
- 框架转移变体是最普遍的分子后果 (36%),其次是错误意义变体 (29%).
结论:
- 本综述提供了阿拉伯人口中DYSF突变谱的全面概述,突出了地理和表型的多样性.
- 记录这些变体对于提高诊断准确性和为该地区的线性疾病公共卫生战略提供信息至关重要.
- 需要进行进一步的队列研究,特别是在具有有限遗传数据的摩洛哥等国家.
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