Silva M C F, Zuccherato L W, Soares-Souza G B, Vieira Z M, Cabrera L, Herrera P, Balqui J, Romero C, Jahuira H, Gilman R H, Martins M L, Tarazona-Santos E
Fundação Hemominas, Belo Horizonte, MG, Brasil.
Genet Mol Res. 2010 Oct 19;9(4):2069-85. doi: 10.4238/vol9-4gmr911.
Admixture occurs when individuals from parental populations that have been isolated for hundreds of generations form a new hybrid population. Currently, interest in measuring biogeographic ancestry has spread from anthropology to forensic sciences, direct-to-consumers personal genomics, and civil rights issues of minorities, and it is critical for genetic epidemiology studies of admixed populations. Markers with highly differentiated frequencies among human populations are informative of ancestry and are called ancestry informative markers (AIMs). For tri-hybrid Latin American populations, ancestry information is required for Africans, Europeans and Native Americans. We developed two multiplex panels of AIMs (for 14 SNPs) to be genotyped by two mini-sequencing reactions, suitable for investigators of medium-small laboratories to estimate admixture of Latin American populations. We tested the performance of these AIMs by comparing results obtained with our 14 AIMs with those obtained using 108 AIMs genotyped in the same individuals, for which DNA samples is available for other investigators. We emphasize that this type of comparison should be made when new admixture/population structure panels are developed. At the population level, our 14 AIMs were useful to estimate European admixture, though they overestimated African admixture and underestimated Native American admixture. Combined with more AIMs, our panel could be used to infer individual admixture. We used our panel to infer the pattern of admixture in two urban populations (Montes Claros and Manhuaçu) of the State of Minas Gerais (southeastern Brazil), obtaining a snapshot of their genetic structure in the context of their demographic history.
当来自已经隔离了数百代的亲本群体的个体形成一个新的杂交群体时，就会发生混合现象。目前，测量生物地理血统的兴趣已从人类学扩展到法医学、直接面向消费者的个人基因组学以及少数群体的民权问题，这对于混合群体的遗传流行病学研究至关重要。在人类群体中频率高度分化的标记物能够提供血统信息，被称为血统信息标记（AIMs）。对于三杂交的拉丁美洲群体，需要非洲、欧洲和美洲原住民的血统信息。我们开发了两个AIMs多重面板（用于14个单核苷酸多态性），通过两个微测序反应进行基因分型，适合中小型实验室的研究人员估计拉丁美洲群体的混合情况。我们通过将使用我们的14个AIMs获得的结果与使用在同一批个体中进行基因分型的108个AIMs获得的结果进行比较，来测试这些AIMs的性能，这些个体的DNA样本可供其他研究人员使用。我们强调，在开发新的混合/群体结构面板时，应该进行这种类型的比较。在群体水平上，我们的14个AIMs对于估计欧洲血统是有用的，尽管它们高估了非洲血统并低估了美洲原住民血统。与更多的AIMs结合，我们的面板可用于推断个体的混合情况。我们使用我们的面板推断巴西东南部米纳斯吉拉斯州两个城市群体（蒙特斯克拉罗斯和曼瓦苏）的混合模式，在其人口历史背景下获得了它们遗传结构的快照。
