McLean David C, Spruill Ida, Gevao Sahr, Morrison Errol Y St A, Bernard Owen S, Argyropoulos George, Garvey W Timothy
Department of Medicine, Division of Endocrinology, Diabetes, and Medical Genetics, Sea Island Families Project and Project Sugar, The Medical University of South Carolina, Ralph H. Johnson Veteran Affairs Medical Center, Charleston, South Carolina, USA.
Hum Biol. 2003 Apr;75(2):147-61. doi: 10.1353/hub.2003.0035.
To develop informative tools for the study of population affinities in African Americans, we sequenced the hypervariable segments I and II (HVS I and HVS II) of mitochondrial DNA (mtDNA) from 96 Sierra Leoneans; European Americans; rural, Gullah-speaking African Americans; urban African Americans living in Charleston, South Carolina; and Jamaicans. We identified single nucleotide polymorphisms (SNPs) exhibiting ethnic affinities, and developed restriction endonuclease tools to screen these SNPs. Here we show that three HVS restriction site polymorphisms (RSPs), EcoRV, FokI, and MfeI, exhibit appreciable differences in frequency (average delta = 0.4165) between putative African American parental populations (i.e., extant Africans living in Sierra Leone and European Americans). Estimates of European American mtDNA admixture, calculated from haplotypes composed of these three novel RSPs, show a cline of increasing admixture from Gullah-speaking African American (m = 0.0300) to urban Charleston African American (m = 0.0689) to West Coast African American (m = 0.1769) populations. This haplotype admixture in the Gullahs is the lowest recorded to date among African Americans, consistent with previous studies using autosomal markers. These RSPs may become valuable new tools in the study of ancestral affinities and admixture dynamics of African Americans.
为开发用于研究非裔美国人种群亲缘关系的信息工具，我们对96名塞拉利昂人、欧裔美国人、说古勒语的农村非裔美国人、居住在南卡罗来纳州查尔斯顿的城市非裔美国人以及牙买加人的线粒体DNA（mtDNA）高变区I和II（HVS I和HVS II）进行了测序。我们鉴定出了表现出种族亲缘关系的单核苷酸多态性（SNP），并开发了限制性内切酶工具来筛选这些SNP。在此我们表明，三种HVS限制性位点多态性（RSP），即EcoRV、FokI和MfeI，在假定的非裔美国亲本群体（即生活在塞拉利昂的现存非洲人和欧裔美国人）之间的频率上表现出明显差异（平均差值 = 0.4165）。根据由这三种新的RSP组成的单倍型计算得出的欧裔美国人mtDNA混合比例估计值显示，从说古勒语的非裔美国人（m = 0.0300）到查尔斯顿城市非裔美国人（m = 0.0689）再到西海岸非裔美国人（m = 0.1769）群体，混合比例呈上升趋势。古勒人群体中的这种单倍型混合比例是迄今为止非裔美国人中记录到的最低值，这与之前使用常染色体标记的研究结果一致。这些RSP可能会成为研究非裔美国人祖先亲缘关系和混合动态的有价值的新工具。
