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在孤立和世界性的遗传样本中,隐晦的远亲很常见。

Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples.

机构信息

23andMe, Inc., Mountain View, California, United States of America.

出版信息

PLoS One. 2012;7(4):e34267. doi: 10.1371/journal.pone.0034267. Epub 2012 Apr 3.

Abstract

Although a few hundred single nucleotide polymorphisms (SNPs) suffice to infer close familial relationships, high density genome-wide SNP data make possible the inference of more distant relationships such as 2(nd) to 9(th) cousinships. In order to characterize the relationship between genetic similarity and degree of kinship given a timeframe of 100-300 years, we analyzed the sharing of DNA inferred to be identical by descent (IBD) in a subset of individuals from the 23andMe customer database (n = 22,757) and from the Human Genome Diversity Panel (HGDP-CEPH, n = 952). With data from 121 populations, we show that the average amount of DNA shared IBD in most ethnolinguistically-defined populations, for example Native American groups, Finns and Ashkenazi Jews, differs from continentally-defined populations by several orders of magnitude. Via extensive pedigree-based simulations, we determined bounds for predicted degrees of relationship given the amount of genomic IBD sharing in both endogamous and 'unrelated' population samples. Using these bounds as a guide, we detected tens of thousands of 2(nd) to 9(th) degree cousin pairs within a heterogenous set of 5,000 Europeans. The ubiquity of distant relatives, detected via IBD segments, in both ethnolinguistic populations and in large 'unrelated' populations samples has important implications for genetic genealogy, forensics and genotype/phenotype mapping studies.

摘要

尽管数百个单核苷酸多态性(SNP)足以推断出密切的家族关系,但高密度的全基因组 SNP 数据使得推断更远的关系成为可能,例如二代表亲到九代表亲。为了描述在 100-300 年的时间框架内遗传相似性与亲属关系程度之间的关系,我们分析了 23andMe 客户数据库(n=22757)和人类基因组多样性计划(HGDP-CEPH,n=952)中一部分个体的 DNA 同源共享情况,这些 DNA 被推断为同源(IBD)。通过来自 121 个群体的数据,我们表明,在大多数具有民族语言定义的群体中,例如美洲原住民群体、芬兰人和阿什肯纳兹犹太人,平均 IBD 共享的 DNA 数量与按大陆定义的群体有几个数量级的差异。通过广泛的基于系谱的模拟,我们确定了在同卵和“无关”群体样本中 IBD 共享量的预测亲属关系程度的范围。使用这些范围作为指导,我们在一组异质的 5000 名欧洲人中检测到了成千上万的二代表亲到九代表亲。通过 IBD 片段在民族语言群体和大型“无关”群体样本中检测到的远亲的普遍性,对遗传家谱学、法医学和基因型/表型映射研究具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bea/3317976/643af36f76fd/pone.0034267.g001.jpg

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