Y chromosome STR haplotypes and the genetic structure of US populations of African, European, and Hispanic ancestry
Y chromosome STR haplotypes and the genetic structure of US populations of African, European, and Hispanic ancestry
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DOI：
10.1101/gr.463003
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发表时间：
2003-04-01
期刊：
影响因子：
7
通讯作者：
Stoneking, M
中科院分区：
文献类型：
--
作者：
Kayser, M;Brauer, S;Stoneking, M
为了研究美国种族人群的地理结构，我们分析了1705个单倍型，这些单倍型基于Y染色体上的9个短串联重复序列（STR）基因座，分别来自非洲裔美国人、欧洲裔美国人和西班牙裔美国人的9-11个群体。在非裔美国人群体中，Y-STR单倍型的分布没有显著差异，而欧洲裔美国人和西班牙裔群体确实表现出显著的地理异质性。然而，显著异质性来自一个样品;在每种情况下取出该样品消除了显著异质性。多维尺度分析的ESTA值表明，非洲裔美国人群体形成了一个独特的集群，而有一些欧洲裔美国人和西班牙裔群体的混合。许多相同的群体都有线粒体DNA数据;估计欧洲-美国人对非洲-美国人基因库的遗传贡献为27.5%-33.6%（Y-STR单倍型）和9%-15.4%（mtDNA类型）。在美国种族群体中，Y-STR和mtDNA单倍型之间缺乏显著的地理异质性意味着不需要为美国的不同地理区域构建法医DNA数据库。此外，这两个基因座缺乏显著的地理异质性意味着种族群体内疾病易感性的区域差异更可能反映文化/环境因素，而不是任何潜在的遗传异质性。
To investigate geographic structure within U.S. ethnic populations, we analyzed 1705 haplotypes on the basis of 9 short tandem repeat (STR) loci on the Y-chromosome from 9-11 groups each of African-Americans, European-Americans, and Hispanics. There were no significant differences in the distribution of Y-STR haplotypes among African-American groups, whereas European-American and Hispanic groups did exhibit significant geographic heterogeneity. However, the significant heterogeneity resulted from one sample; removal of that sample in each case eliminated the significant heterogeneity. Multidimensional scaling analysis of RST values indicated that African-American groups formed a distinct cluster, whereas there was some intermingling of European-American and Hispanic groups. MtDNA data exist for many of these same groups; estimates of the European-American genetic contribution to the African-American gene pool were 27.5%-33.6% for the Y-STR haplotypes and 9%-15.4% for the mtDNA types. The lack of significant geographic heterogeneity among Y-STR and mtDNA haplotypes in U.S ethnic groups means that forensic DNA databases do not need to be constructed for separate geographic regions of the U.S. Moreover, absence of significant geographic heterogeneity for these two loci means that regional variation in disease susceptibility within ethnic groups is more likely to reflect cultural/environmental factors, rather than any underlying genetic heterogeneity.