The differential relative contribution of males and females from Africa and Europe to individual African American genomes is relevant to mapping genes utilizing admixture analysis. The assessment of ancestral population contributions to the four types of genomic DNA (autosomes, X and Y chromosomes, and mitochondrial) with their differing modes of inheritance is most easily addressed in males. A thorough evaluation of 93 African American males for 2,018 autosomal single nucleotide polymorphic (SNP) markers, 121 X chromosome SNPs, 10 Y chromosome haplogroups specified by SNPs, and six haplogroup defining mtDNA SNPs is presented. A distinct lack of correlation observed between the X chromosome and the autosomal admixture fractions supports separate treatment of these chromosomes in admixture-based gene mapping applications. The European genetic contributions were highest (and African lowest) for the Y chromosome (28.46%), followed by the autosomes (19.99%), then the X chromosome (12.11%), and the mtDNA (8.51%). The relative order of admixture fractions in the genomic compartments validates previous studies that suggested sex-biased gene flow with elevated European male and African female contributions. There is a threefold higher European male contribution compared with European females (Y chromosome vs. mtDNA) to the genomes of African American individuals meaning that admixture-based gene discovery will have the most power for the autosomes and will be more limited for X chromosome analysis.

译文

:非洲和欧洲的雄性和雌性对单个非裔美国人基因组的不同相对贡献与利用混合分析对基因进行定位有关。在男性中,最容易解决对祖先种群对四种基因组DNA(常染色体,X和Y染色体以及线粒体)及其不同遗传方式的贡献的评估。彻底评估了93名非洲裔美国男性的2018个常染色体单核苷酸多态性(SNP)标记,121个X染色体SNP,由SNP指定的10个Y染色体单倍群和六个定义mtDNA SNP的单倍群。在X染色体和常染色体混合物级分之间观察到的明显缺乏相关性支持了在基于混合物的基因作图应用中对这些染色体的单独处理。欧洲的遗传贡献在Y染色体上最高(非洲最低)(28.46%),其次是常染色体(19.99%),然后是X染色体(12.11%)和mtDNA(8.51%)。基因组区室中混合组分的相对顺序验证了以前的研究,该研究表明性别偏向的基因流与欧洲男性和非洲女性的贡献增加有关。在非裔美国人的基因组中,欧洲男性的贡献比欧洲女性高出三倍(Y染色体与mtDNA),这意味着基于混合物的基因发现将对常染色体具有最大的作用,并且在X染色体分析中将受到更大的限制。 。

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