沙特阿拉伯遗传疾病的前景
Amerh S Alqahtani1, Raniah S Alotibi2,3, Taghrid Aloraini4,5
1Medical Genetics Department, King Saud Medical City, Riyadh, Saudi Arabia.
Frontiers in genetics
|October 6, 2023
概括
沙特阿拉伯的血缘婚姻对罕见的遗传疾病有很大影响. 在这个人群中,外体序列测序被推作为这些疾病的首要诊断工具.
科学领域:
- 医学遗传学 医学遗传学
- 基因组医学是基因组医学.
- 罕见疾病 罕见疾病
背景情况:
- 罕见疾病给医疗保健系统和家庭带来了巨大的负担,特别是在流行率很高的沙特阿拉伯 (SA).
- 文化和社会经济因素有助于高发病率的RDs在SA.
- 了解SA中的RDs的遗传基础对于有效的管理和预防至关重要.
研究的目的:
- 调查导致沙特阿拉伯罕见疾病流行的遗传因素.
- 评估各种分子遗传技术的诊断产量,包括下一代测序.
- 突出血缘关系在SA的RDs遗传格局中的作用.
主要方法:
- 从2020年9月到2021年12月,沙特国王医疗城进行了一项回顾性研究.
- 包括1080个个体,并分析了544个可能相关的变体.
- 采用各种分子技术,如外体测序 (ES),基因组测序 (GS),分子面板和SNP数组.
主要成果:
- 对外体序列测序 (ES) 观察到41.8%的诊断收益率.
- 在56%的病例中存在血缘关系,其中自体逆向遗传占54%.
- 在ES检测率和积极血缘关系之间发现了显著的相关性,神经发育障碍是最常见的表型.
结论:
- 血缘关系的婚姻显著影响了沙特阿拉伯遗传疾病的流行和负担.
- 外体测序 (ES) 是一种高效的第一级测试,用于在血缘亲属群体中确立遗传诊断.
- 在沙特阿拉伯,提高社会对遗传疾病的认识是必不可少的.
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