Collins-Schramm Heather E, Chima Bill, Morii Takanobu, Wah Kimberly, Figueroa Yolanda, Criswell Lindsey A, Hanson Robert L, Knowler William C, Silva Gabriel, Belmont John W, Seldin Michael F
Rowe Program in Human Genetics, Department of Biological Chemistry, University of California at Davis, One Shields Avenue, Davis, CA 95616-8669, USA.
Hum Genet. 2004 Feb;114(3):263-71. doi: 10.1007/s00439-003-1058-6. Epub 2003 Nov 20.
Markers with large differences in allele frequencies between ethnicities provide ancestry information that can be applied to genetic studies. We identified over 100 biallelic ancestry informative markers (AIMs) with large allele frequency differences between European Americans (EA) and Pima Amerindians from laboratory and database screens. For 35 of these markers, Mayan, Yavapai and Quechuan Amerindians were genotyped and compared with EA and Pima allele frequencies. Markers with large allele frequency differences between EA and one Amerindian tribe showed only small differences between the Amerindian tribes. Examination of structure in individuals demonstrated a clear separation of subjects of European from those of Amerindian ancestry, and similarity between individuals from disparate Amerindian populations. The AIMs demonstrated the variation in ancestral composition of individual Mexican Americans, providing evidence of applicability in admixture mapping and in controlling for structure in association tests. In addition, a high percentage of single-nucleotide polymorphisms (SNPs) selected on the basis of large frequency differences between EA and Asian populations had large allele frequency differences between EA and Amerindians, suggesting an efficient method for greatly expanding AIMs for use in admixture mapping/structure analysis in Mexican Americans. Together, these data provide additional support for the practical application of admixture mapping in the Mexican American population.
在不同种族之间等位基因频率存在巨大差异的标记物提供了可应用于基因研究的祖先信息。我们通过实验室和数据库筛选，在欧裔美国人（EA）和皮马美洲印第安人之间鉴定出了100多个具有巨大等位基因频率差异的双等位基因祖先信息标记物（AIMs）。对于其中35个标记物，对玛雅、雅瓦派和克丘亚美洲印第安人进行了基因分型，并与EA和皮马人的等位基因频率进行了比较。在EA和一个美洲印第安部落之间具有巨大等位基因频率差异的标记物，在美洲印第安部落之间仅显示出微小差异。对个体结构的检查表明，欧洲血统的个体与美洲印第安血统的个体明显分开，并且不同美洲印第安人群体的个体之间具有相似性。这些AIMs展示了个体墨西哥裔美国人祖先组成的差异，为其在混合映射和关联测试中控制结构方面的适用性提供了证据。此外，基于EA和亚洲人群之间的巨大频率差异选择的单核苷酸多态性（SNP）中，有很大比例在EA和美洲印第安人之间也存在巨大的等位基因频率差异，这表明了一种有效方法，可大大扩展用于墨西哥裔美国人混合映射/结构分析的AIMs。总之，这些数据为混合映射在墨西哥裔美国人群体中的实际应用提供了更多支持。
