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埃塞俄比亚提格雷族群法医常染色体和性染色体 STR 标记参考数据库。

A reference database of forensic autosomal and gonosomal STR markers in the Tigray population of Ethiopia.

机构信息

Department of Forensic Medicine, University of Mekelle, Mekelle, Ethiopia.

Department of Public Health Sciences and Pediatrics, University of Turin, Turin, Italy.

出版信息

Forensic Sci Int Genet. 2022 Jan;56:102618. doi: 10.1016/j.fsigen.2021.102618. Epub 2021 Oct 23.

DOI:10.1016/j.fsigen.2021.102618
PMID:34735940
Abstract

Allele frequencies of 21 autosomal STR markers (AmpF/STR GlobalFiler) and haplotype frequencies of 27 Y- and 12 X-STR markers (AmpF/STR YFiler Plus and Investigator Argus X-12, respectively) were investigated in the Tigray population of Ethiopia, representing the main population group in the Tigray regional state of Ethiopia and neighboring Eritrea. For autosomal STR allele frequencies, the average random match probability in the Tigray sample was 2.1 × 10. The average locus by locus F distance calculated comparing autosomal STR allele frequencies from Tigray and from a broad regional reference dataset currently available for the Horn of Africa was 0.003. The Tigray male sample displayed high Y-STR diversity, with complete individualization of haplotypes using the AmpF/STR YFiler Plus panel. Analysis of molecular variance did not detect significant heterogeneity between Y-STR haplotypes observed in the present study and those previously reported in the literature for other Tigray population samples from Ethiopia and Eritrea. Study of the X-STR landscape in Tigray evidenced several distinctive features including: the molecular characterization of a novel null allele at locus DXS10146 with frequency > 1%; allele dependency between loci within linkage groups I and III; significant differences in haplotype distribution compared to other Horn of Africa populations, that should be taken into account in kinship analysis. The collected data can be used as a reference STR database by local forensic genetics services and in genetic identification procedures of victims of human trafficking in the Mediterranean Sea, which frequently involve individuals originating from the Horn of Africa.

摘要

在埃塞俄比亚提格雷地区的人群中,我们研究了 21 个常染色体 STR 标记(AmpF/STR GlobalFiler)的等位基因频率和 27 个 Y-STR 标记(AmpF/STR YFiler Plus)和 12 个 X-STR 标记(AmpF/STR Investigator Argus X-12)的单体型频率,这些人群代表了埃塞俄比亚提格雷地区州和邻国厄立特里亚的主要人群。对于常染色体 STR 等位基因频率,提格雷样本的平均随机匹配概率为 2.1×10-9。通过比较提格雷和目前可用于非洲之角的广泛区域参考数据集的常染色体 STR 等位基因频率计算出的平均每个基因座的 F 距离为 0.003。提格雷男性样本显示出高 Y-STR 多样性,使用 AmpF/STR YFiler Plus 试剂盒可完全个体化单体型。分析分子方差未检测到本研究中观察到的 Y-STR 单体型与之前在文献中报道的来自埃塞俄比亚和厄立特里亚的其他提格雷人群样本之间存在显著异质性。在提格雷进行的 X-STR 景观研究显示出一些独特的特征,包括:在 DXS10146 基因座发现一个新的频率>1%的无效等位基因;连锁群 I 和 III 内基因座之间的等位基因依赖性;与其他非洲之角人群相比,单体型分布存在显著差异,这在亲属关系分析中应予以考虑。收集的数据可作为当地法医遗传学服务的参考 STR 数据库,并可用于地中海人口贩运受害者的遗传鉴定程序,这些受害者通常来自非洲之角。

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