近亲结婚率可预测犹太人群体中的纯合子长片段。
Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations.
作者信息
Kang Jonathan T L, Goldberg Amy, Edge Michael D, Behar Doron M, Rosenberg Noah A
机构信息
Department of Biology, Stanford University, Stanford, CA, USA.
出版信息
Hum Hered. 2016;82(3-4):87-102. doi: 10.1159/000478897. Epub 2017 Sep 15.
OBJECTIVES
Recent studies have highlighted the potential of analyses of genomic sharing to produce insight into the demographic processes affecting human populations. We study runs of homozygosity (ROH) in 18 Jewish populations, examining these groups in relation to 123 non-Jewish populations sampled worldwide.
METHODS
By sorting ROH into 3 length classes (short, intermediate, and long), we evaluate the impact of demographic processes on genomic patterns in Jewish populations.
RESULTS
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.
CONCLUSION
The 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.
目的
近期研究强调了基因组共享分析对于深入了解影响人类群体的人口统计学过程的潜力。我们研究了18个犹太人群体中的纯合子片段（ROH），并将这些群体与全球范围内抽样的123个非犹太人群体进行了比较。
方法
通过将ROH分为3种长度类别（短、中、长），我们评估了人口统计学过程对犹太人群体基因组模式的影响。
结果
我们发现，基因组中出现在长ROH中的部分——与近期近亲结婚最直接相关的长度类别——与20世纪50年代从访谈中收集的不同犹太群体近亲结婚频率的数据密切相符。
结论
20世纪50年代的近亲结婚水平与长ROH覆盖范围之间的高度相关性解释了不同群体ROH模式的差异。将ROH细分为长度类别并与近亲结婚数据进行比较有助于理解许多其他现象，包括犹太人群体在短ROH模式下与中东、欧洲以及中亚和南亚非犹太人群体的相似性、不同犹太群体中同源片段的相对长度，以及阿什肯纳兹犹太人的“群体隔离”状态。
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