Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología y Biotecnología, Cátedra de Genética Forense y Servicio de Huellas Digitales Genéticas, Universidad de Buenos Aires, Junín 956, C1113AAD, Buenos Aires, Argentina.
CONICET - Consejo Nacional de Investigaciones Científicas y Tecnológicas, C1033AAJ, Buenos Aires, Argentina.
Int J Legal Med. 2019 Sep;133(5):1309-1320. doi: 10.1007/s00414-019-02012-5. Epub 2019 Feb 9.
The Y chromosome behaves as a single locus. Its genetic information is useful in forensic casework, deficiency kinship testing, and population genetics studies. Continuous increases of loci number within commercial kits forced modification of worldwide reference databases. In Pan American countries, like Argentina, diverse parental ethnic groups contributed to the extant admixed urban populations. We report 509 additional haplotypes of 23 Y-STRs from donors inhabiting urban areas of six Argentinean provinces: Buenos Aires, Santiago del Estero, Santa Cruz, Rio Negro, Santa Fe, and Formosa. To better understand the demographic landscape of the admixed urban paternal lineages, structural analysis was performed using published data from other Argentinean provinces. AMOVA by Rst distance and inferred haplogroups by two predictive online software methods based on haplotypes yielded complementary results with respect to detected population structure, probably due to the different proportions of the Native American Q3-M3 haplogroup in the studied samples. This situation, which is common to most North, Meso, and South American countries, underscores the need for the additional step of typing specific SNPs for haplogroup diagnosis. We propose organizing Y-STR haplotype reference databases according to the most frequent haplogroups detected in a given admixed population.
Y 染色体表现为一个单一的基因座。其遗传信息在法医学案例工作、亲缘关系检测不足和群体遗传学研究中非常有用。商业试剂盒中基因座数量的持续增加迫使全球参考数据库进行了修改。在像阿根廷这样的泛美国家,不同的父母族群为现存的混合城市人口做出了贡献。我们报告了来自阿根廷六个省份(布宜诺斯艾利斯、圣地亚哥德尔埃斯特罗、圣克鲁斯、里奥内格罗、圣达菲和福莫萨)城市地区的 23 个 Y-STR 中 509 个额外的单倍型。为了更好地了解混合城市父系血统的人口结构,我们使用来自阿根廷其他省份的已发表数据进行了结构分析。基于 Rst 距离的 AMOVA 和基于单倍型的两种预测在线软件方法推断的单倍群在检测到的人口结构方面产生了互补的结果,这可能是由于在研究样本中美洲原住民 Q3-M3 单倍群的比例不同。这种情况在大多数北美、中美洲和南美洲国家都很常见,突出了需要为单倍群诊断增加特定 SNP 分型的额外步骤。我们建议根据给定混合人群中检测到的最常见单倍群来组织 Y-STR 单倍型参考数据库。