巴西圣埃斯皮里图州人群的 15 个常染色体和 12 个 Y-STR 基因座的遗传分析。
Genetic analysis of 15 autosomal and 12 Y-STR loci in the Espirito Santo State population, Brazil.
机构信息
Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Av. Marechal Campos, 1468 Campus de Maruípe, CEP 29040-090 Vitória, ES, Brazil.
出版信息
Forensic Sci Int Genet. 2011 Jun;5(3):e41-3. doi: 10.1016/j.fsigen.2010.05.001. Epub 2010 Jun 8.
This study provides population genetic data for individuals of Vitoria, Espirito Santo, Brazil, a location not yet characterized for STR frequencies used for genetic identification studies. Allelic frequencies and other population data analysis are reported for the 15 autosomal-STR loci included in the PowerPlex(®)16 kit (CSF1PO, D13S317, D16S539, D18S51, D21S11, D3S1358, D5S818, D7S820, D8S1179, FGA, Penta D, Penta E, TPOX, TH01 and vWA). Allele and haplotype frequencies, gene diversity and discrimination capacity were also estimated for the PowerPlex(®) Y System (DYS19, DYS385, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439). Blood samples were obtained from 226 unrelated volunteers (135 males and 91 females) residents in the city of Vitoria, representing a typical sample of the mixed ethnicity present in the Espirito Santo State, Brazil. Within the tested population, the total number of individuals typed for specific markers is: 226 for D13S317, D21S11, D3S1358, D7S820, D8S1179 and FGA; 225 for D16S539 and D5S818; 224 for D18S51; 223 for CSF1PO; 222 for Penta D and vWA; 220 for Penta E; 207 for TPOX and 142 for TH01. Y-STR haplotypes were analyzed for 102 unrelated males, being 71 of them present in the 135 autosomal-STR sample, and 31 new males tested only for Y-STR markers. All autosomal markers were in Hardy-Weinberg Equilibrium. Y-STR analysis identified 101 haplotypes, being 100 of them unique.
这项研究为巴西圣埃斯皮里图州维多利亚市的个体提供了群体遗传学数据，该地区的 STR 频率尚未用于遗传识别研究。报告了 15 个常染色体 STR 基因座的等位基因频率和其他群体数据分析，这些基因座包含在 PowerPlex(®)16 试剂盒中（CSF1PO、D13S317、D16S539、D18S51、D21S11、D3S1358、D5S818、D7S820、D8S1179、FGA、Penta D、Penta E、TPOX、TH01 和 vWA）。还估计了 PowerPlex(®)Y 系统（DYS19、DYS385、DYS389I/II、DYS390、DYS391、DYS392、DYS393、DYS437、DYS438 和 DYS439）的等位基因和单倍型频率、基因多样性和鉴别能力。从居住在维多利亚市的 226 名无关志愿者（135 名男性和 91 名女性）中采集了血液样本，这代表了巴西圣埃斯皮里图州混合种族的典型样本。在所测试的人群中，特定标记物的个体分型总数为：226 个用于 D13S317、D21S11、D3S1358、D7S820、D8S1179 和 FGA；225 个用于 D16S539 和 D5S818；224 个用于 D18S51；223 个用于 CSF1PO；222 个用于 Penta D 和 vWA；220 个用于 Penta E；207 个用于 TPOX 和 142 个用于 TH01。对 102 名无关男性进行了 Y-STR 单倍型分析，其中 71 名男性存在于 135 名常染色体 STR 样本中，另外 31 名男性仅接受了 Y-STR 标记物的测试。所有常染色体标记均处于 Hardy-Weinberg 平衡状态。Y-STR 分析鉴定了 101 个单倍型，其中 100 个是独特的。
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