不同种群在自然选择位点的连锁不平衡区比较

Sun-Ah Kim, Suh-Ryung Kim, Y. J. Yoo
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引用次数: 0

摘要

连锁不平衡结构(LD)是群体遗传学和疾病基因关联研究的主要来源。特别是,分析携带衍生等位基因的延伸长单倍型和检查LD块模式可以为正选择提供证据。我们通过比较基于1000基因组计划数据的LD块构建结果,研究了东亚、欧洲和非洲人群中先前报道的阳性选择位点的LD块结构。我们证实不同人群中EDAR、LCT、PCDH15和LARGE区域LD块大小的差异与文献报道一致。我们发现东亚和欧洲人群中SLC30A19、PDE11A和BCAS3存在正选择的新证据。
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Comparisons of linkage disequilibrium blocks of different populations at the sites of natural selection
Linkage disequilibrium structure (LD) is the main source of the study of population genetics and disease-gene association. Especially, analyzing extended long haplotypes carrying a derived allele and examining LD block patterns can provide evidence for positive selection. We investigated the LD block structure of East Asian, European, and African populations for the previously reported sites of positive selection by comparing LD block construction results based on 1000 Genomes Project data. We confirmed that differences of LD block size in EDAR, LCT, PCDH15, and LARGE region among different populations is consistent with previous reports. We found new evidence for positive selection in SLC30A19, PDE11A and BCAS3 in East Asian and European populations based on the LD block patterns.
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