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首页> 外文期刊>Annals of Human Genetics >Estimation of admixture and detection of linkage in admixed populations by a Bayesian approach: application to African-American populations.
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Estimation of admixture and detection of linkage in admixed populations by a Bayesian approach: application to African-American populations.

机译：用贝叶斯方法估计混合种群中的混合物，并检测其连锁性：适用于非裔美国人群体。

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摘要

We describe a novel method for analysis of marker genotype data from admixed populations, based on a hybrid of Bayesian and frequentist approaches in which the posterior distribution is generated by Markov chain simulation and score tests are obtained from the missing-data likelihood. We analysed data on unrelated individuals from eight African-American populations, genotyped at ten marker loci of which two (FY and AT3) are linked (22 cM apart). Linkage between these two loci was detected by testing for association of ancestry conditional on parental admixture. The strength of this association was consistent with European gene flow into the African-American population between five and nine generations ago. To mimic the mapping of an unknown gene in an 'affecteds- only' analysis, a binary trait was constructed from the genotype at the AT3 locus and a score test was shown to detect linkage of this 'trait' with the FY locus. Mis-specification of the ancestry-specific allele frequencies - the probabilities of each allelic state given the ancestry of the allele - was detected at three of the ten marker loci. The methods described here have wide application to the analysis of data from admixed populations, allowing the effects of linkage and population structure (variation of admixture between individuals) to be distinguished. With more markers and a more complex statistical model, genes underlying ethnic differences in disease risk could be mapped by this approach.
机译：我们描述了一种新的方法，用于分析混合人群中标记基因型数据，该方法基于贝叶斯和频度方法的混合，其中后验分布是通过马尔可夫链模拟生成的，并且从缺失数据的可能性中获得了得分测试。我们分析了来自八个非裔美国人人群的不相关个体的数据，这些个体在十个标记位点进行基因分型，其中两个标记位点（FY和AT3）相关（相距22 cM）。通过测试以父母混合物为条件的血统关联，可以检测到这两个基因座之间的联系。这种联系的强度与五到九代前欧洲基因向非裔美国人中的流入相一致。为了模拟“仅受影响”分析中未知基因的作图，从AT3基因座的基因型构建了一个二元性状，并显示了得分测试以检测该“性状”与FY基因座的联系。在十个标记位点中的三个位点检测到祖先特定等位基因频率的错误指定-给定等位基因祖先的每个等位基因状态的概率。此处描述的方法可广泛应用于混合人群的数据分析，从而可以区分连锁和群体结构（个体之间混合物的变化）的影响。通过使用更多的标记和更复杂的统计模型，可以通过这种方法绘制出疾病风险中种族差异背后的基因。

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