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人口泛种族查小组通过深度全基因组测序来实现

Linfeng Yang^1,2, Zhe Lin^1,2, Yong Gao^1,2

¹Hebei Industrial Technology Research Institute of Genomics in Maternal and Child Health, BGI-Shijiazhuang Medical Laboratory, Shijiazhuang, China.

NPJ genomic medicine

|November 20, 2023

概括

这项研究分析了中国人口中的遗传变异,以了解出生缺陷. 研究结果表明,全民族查策略是可行的,可以改善生殖健康和指导遗传咨询.

科学领域:

基因组学就是基因组学.
公共卫生公共卫生
遗传流行病学遗传流行病学

背景情况:

出生缺陷是一个全球性的健康挑战,由于未知的遗传机制和预防方面的困难而复杂化.
在中国实施有效的生殖健康策略是复杂的,因为人口的显著基因组多样性跨越种族群体.

研究的目的:

评估在中国针对自身相性衰退性疾病 (AR) 的泛民族查策略的可行性.
通过分析来自大型中国队列的高质量遗传变异来指导未来的生殖咨询.
为了确定AR疾病的潜在治疗点.

主要方法:

使用自下而上的方法,从最大的公开可用的中国人口队列中重新分析与AR疾病相关的高质量变异.
对不同族群的基因携带率 (GCRs) 的分析,以确定异质性.
基于基因组特征和基因功能,包括相分离的可药物点的探索.

主要成果:

在中国族群中观察到GCRs的实质性异质性,可能与进化选择有关.
在ChinaMAP群组和gnomAD东亚群组之间发现了不同的变异,受样本采集,测序和人口结构的影响.
阶段分离成为AR疾病的潜在治疗目标.
大多数基因共享至少两个人群可以告知泛种族查应用程序的设计.

结论:

在中国,针对AR疾病的泛民族查策略是可行的,特别是随着成本的下降.
基于GCR的AR疾病基因优先考虑可以为生殖健康的分层查方法提供信息.
了解特定种族的遗传变异对于有效的公共卫生干预和遗传咨询至关重要.

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