Elevated male European and female African contributions to the genomes of African American individuals
Elevated male European and female African contributions to the genomes of African American individuals
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DOI：
10.1007/s00439-006-0261-7
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发表时间：
2007-01-01
期刊：
影响因子：
5.3
通讯作者：
Smith, Michael W.
中科院分区：
文献类型：
--
作者：
Lind, Joanne M.;Hutcheson-Dilks, Holli B.;Smith, Michael W.
来自非洲和欧洲的男性和女性对个体非裔美国人基因组的差异相对贡献与利用混合物分析绘制基因有关。评估祖先群体对四种类型的基因组DNA（常染色体、X和Y染色体以及线粒体）的贡献及其不同的遗传模式在男性中最容易解决。对93名非裔美国男性进行了全面评估，包括2，018个常染色体单核苷酸多态性（SNP）标记，121个X染色体SNP，10个由SNP指定的Y染色体单倍群和6个单倍群定义的mtDNA SNP。在X染色体和常染色体混合物组分之间观察到的明显缺乏相关性支持在基于混合物的基因作图应用中对这些染色体进行单独处理。欧洲人对Y染色体的遗传贡献最高（非洲人最低）（28.46%），其次是常染色体（19.99%），然后是X染色体（12.11%）和mtDNA（8.51%）。混合物组分在基因组室的相对顺序验证了以前的研究表明，性别偏见的基因流与欧洲男性和非洲女性的贡献提高。与欧洲女性相比，欧洲男性对非裔美国人个体基因组的贡献高出三倍（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影响力，而对X染色体分析则更为有限。
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.