人类基因组中的链接不平衡
1Whitehead Institute / MIT Center for Genome Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA. reich@genome.wi.mit.edu
Nature
|May 11, 2001
概括
疾病基因的链接不平衡 (LD) 映射在北美人口中很实用,LD延伸约60 kb. 这一发现与尼日利亚人口形成鲜明对比,表明LD模式反映了古老的人口统计事件.
科学领域:
- 人类遗传学 人类遗传学
- 人口遗传学 人口遗传学
- 基因组绘制基因组绘制
背景情况:
- 单核酸多态度 (SNPs) 的密集的全基因组地图提高了使用链接不平衡 (LD) 进行疾病基因映射的可能性.
- 对于映射分辨率至关重要的LD块的范围一直在争论中,估计范围从几千基 (kb) 到100kb以上.
研究的目的:
- 通过使用统一的协议,系统地调查跨多个基因组区域的LD程度.
- 确定不同人群中疾病基因的LD映射的可行性.
主要方法:
- 使用统一的实验协议检查了19个随机选择的基因组区域.
- 在北欧血统的北美人口和尼日利亚人口中分析了LD模式.
主要成果:
- 在北欧血统的人群中,LD通常从常见的SNP延伸约60kb,这表明LD映射是实际的.
- 与北欧血统人口相比,尼日利亚人口的LD扩展幅度要小得多.
- 在北欧人中观察到的LD模式表明2700053000年前的人口事件的影响.
结论:
- LD映射是一种潜在的实用方法,用于在患有广泛的LD的人群中发现疾病基因,例如北欧血统的人群.
- 人口之间的LD程度的差异为人类进化历史和人口统计事件提供了洞察力.
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