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巴西东北部非洲裔黑人社区的基因多态性与种族混合

Genetic polymorphisms and ethnic admixture in African-derived black communities of northeastern Brazil.

作者信息

Arpini-Sampaio Z, Costa M C, Melo A A, Carvalho M F, Deus M S, Simões A L

机构信息

Department of Genetics, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil.

出版信息

Hum Biol. 1999 Feb;71(1):69-85.

PMID:9972099
Abstract

Unrelated individuals from 3 relatively isolated African-derived communities in the state of Piauí, northeastern Brazil, and blood donors from Teresina (admixed population), the capital city of Piauí, were analyzed for the ESD, CA2, GC, HP, GLO1, PGM1, HB, ACP1 protein loci and for the VWF1 and VWF2 short tandem repeat (STR) loci. As expected, high frequencies of alleles considered characteristics of African populations were detected. The VWF1 allele distribution was bi-modal, whereas the VWF2 distribution was unimodal, suggesting differential action of mutation and selection factors in the 2 STRs despite their close location on the same gene. The genetic distances between the Brazilian isolates coincide with their geographic distances. The ethnic admixture estimated by a maximum-likelihood method showed African, European, and Amerindian components of 61%, 17%, and 22% for Mimbó, 72%, 12%, and 16% for Sítio Velho, and 31%, 21%, and 48% for Teresina, respectively.

摘要

对来自巴西东北部皮奥伊州3个相对隔离的非洲裔社区的无关个体,以及来自皮奥伊州首府特雷西纳(混合人群)的献血者,进行了酯酶D(ESD)、碳酸酐酶2(CA2)、Gc球蛋白(GC)、结合珠蛋白(HP)、1型谷氨酸草酰乙酸转氨酶(GLO1)、磷酸葡萄糖变位酶1(PGM1)、血红蛋白(HB)、酸性磷酸酶1(ACP1)蛋白位点以及血管性血友病因子1(VWF1)和血管性血友病因子2(VWF2)短串联重复序列(STR)位点的分析。正如预期的那样,检测到了被认为是非洲人群特征的高频等位基因。VWF1等位基因分布呈双峰模式,而VWF2分布呈单峰模式,这表明尽管这两个STR位于同一基因上且位置相近,但突变和选择因素对它们的作用不同。巴西各隔离群体之间的遗传距离与其地理距离一致。通过最大似然法估计的种族混合情况显示,Mimbó群体的非洲、欧洲和美洲印第安成分分别为61%、17%和22%,Sítio Velho群体分别为72%、12%和16%,特雷西纳群体分别为31%、21%和48%。

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