Caracterización de una microvariante del locus DYS533 y su relación con su origen geográfico

We typed 1541 Y-STR haplotypes from reference samples along forensic casework investigations. In three haplotypes, we detected a variant allele designed as 16.3 at locus DYS533. This was confirmed by amplification using two commercial kits. Sanger sequencing revealing a novel motif corresponding to [TATC]12 repeats with a 19-bp insertion in the flanking upstream region. We propose its origin as an insertion at 􀀀 9.1 upstream of the repeat motifs. We searched other local databases and found this allele in various geographical areas of Argentina and neighbouring countries. The haplotypes share a common core of 10 Y-STRs (DYS389-I/13; DYS389-II/30; DYS19/14; DYS481/22; DYS438/12; DYS437/16; DYS635/23; DYS392/13; DYS393/13; GATA H4/11) and belong to the R1b haplogroup. This 16.3 allele is restricted to southern South America, which allows us to propose a local and relatively recent origin. The sequence described herein constitutes a novelty that could be considered in future criteria for the nomenclature of STRs based on massively parallel sequencing.

本研究在参考样本中采集了1541个Y-STR单倍型，并伴随法医案件调查进行。在三个单倍型中，我们检测到一个在DYS533位点的16.3变异等位基因。通过使用两种商业试剂盒进行扩增，该变异得到了确认。Sanger测序揭示了一个对应于[TATC]12重复序列的新模式，并在上游相邻区域插入19个碱基。我们提出该变异起源于重复模式上游9.1kb处的插入。我们检索了其他地方数据库，并发现该等位基因在阿根廷及其周边地区的多个地理区域存在。这些单倍型共享10个Y-STR（DYS389-I/13；DYS389-II/30；DYS19/14；DYS481/22；DYS438/12；DYS437/16；DYS635/23；DYS392/13；DYS393/13；GATA H4/11）的共同核心，并归属于R1b单倍群。16.3等位基因仅限于南美洲南部，这使我们能够提出其地方性和相对较新的起源。此处描述的序列构成了一个新发现，该发现可以考虑在未来基于大规模并行测序的STRs命名标准中作为新标准。