A method for distinguishing consanguinity and population substructure using multilocus genotype data
A method for distinguishing consanguinity and population substructure using multilocus genotype data
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DOI：
10.1093/oxfordjournals.molbev.a003746
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发表时间：
2001-11-01
影响因子：
10.7
通讯作者：
Nichols, RA
中科院分区：
文献类型：
--
作者：
Overall, ADJ;Nichols, RA
我们使用多个位点的纯合性模式来区分由近亲交配引起的过度纯合性和由于未被发现的群体细分（Wahlund效应）。阐明过量纯合性的根本原因在解释隐性遗传疾病的发生和法医匹配概率计算中具有实际重要性。我们计算了两个参数的似然曲面：C，实行血缘关系的人口比例，和θ，由于人口细分的遗传相关性。为了说明该方法，我们将其应用于两个英国的多位点基因型数据。亚洲人口中，一个实行高频率的表亲婚姻，另一个怀疑种姓内婚。该方法能够成功区分不同的相关模式。该方法还使用模拟数据集返回C和θ的准确估计。我们展示了我们的方法可以扩展到允许近亲繁殖的程度比堂兄弟工会，包括自交。随着近亲繁殖的日益密切，父母之外的最近祖先的亲缘关系成为一个问题。
We use the patterns of homozygosity at multiple loci to distinguish between excess homozygosity caused by consanguineous mating and that due to undetected population subdivision (the Wahlund effect). Clarification of the underlying causes of excess homozygosity is of practical importance in explaining the occurrence of recessive genetic disorders and in forensic match probability calculations. We calculated a likelihood surface for two parameters: C, the proportion of the population practicing consanguinity, and theta, the genetic correlation due population subdivision. To illustrate the method, we applied it to multilocus genotypic data of two U.K. Asian populations, one practicing a high frequency of cousin marriage, and another in which caste endogamy was suspected. The method was able to successfully distinguish the different patterns of relatedness. The method also returned accurate estimates of C and theta using simulated data sets. We show how our method can be extended to allow for degrees of inbreeding closer than cousin unions, including selfing. With closer inbreeding, the relatedness of recent ancestors beyond the parents becomes an issue.