Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations.

Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations.
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DOI:
10.1159/000478897
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发表时间:
2016
期刊:
影响因子:
1.8
通讯作者:
Rosenberg NA
Rosenberg NA
中科院分区:
生物学4区
文献类型:
--
作者:
Kang JTL;Goldberg A;Edge MD;Behar DM;Rosenberg NA

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最近的研究强调了基因组共享分析的潜力,可以深入了解影响人类的人口统计过程。我们研究了 18 个犹太人口中的 ROH,将这些群体与全球采样的 123 个非犹太人口进行比较。通过将 ROH 分为三个长度类别(短、中和长),我们评估了人口统计过程对犹太人群体基因组模式的影响。我们发现,长 ROH 中出现的基因组部分(与近期血缘关系最直接相关的长度类别)与 20 世纪 50 年代各个犹太群体中近亲结合频率的采访数据密切一致。 20 世纪 50 年代的血缘关系水平与长 ROH 覆盖范围之间的高度相关性解释了不同人群的 ROH 模式差异。将 ROH 分解为长度类别以及与血缘数据的比较有助于理解许多其他现象,包括犹太人口与中东、欧洲、中亚和南亚非犹太人口在短 ROH 模式中的相似性、不同犹太群体中血统认同区的相对长度,以及德系犹太人的“人口隔离”状态。
Recent studies have highlighted the potential of analyses of genomic sharing to produce insight into the demographic processes affecting human populations. We study ROH in 18 Jewish populations, examining these groups in relation to 123 non-Jewish populations sampled worldwide. By sorting ROH into three length classes—short, intermediate, and long—we evaluate the impact of demographic processes on genomic patterns in Jewish populations. We find that the portion of the genome appearing in long ROH—the length class most directly related to recent consanguinity—closely accords with data gathered from interviews during the 1950s on frequencies of consanguineous unions in various Jewish groups. A high correlation between 1950s consanguinity levels and coverage by long ROH explains differences across populations in ROH patterns. The dissection of ROH into length classes and the comparison to consanguinity data assist in understanding a number of additional phenomena, including similarities of Jewish populations to Middle Eastern, European, and Central and South Asian non-Jewish populations in short ROH patterns, relative lengths of identity-by-descent tracts in different Jewish groups, and the “population isolate” status of the Ashkenazi Jews.
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