多拷贝Y-STR基因座在法庭科学领域的研究

Progress towards Forensic Research and Application of Multi-copied Y-STR Loci

Y-STR技术现已成为法庭科学领域重要的检验鉴定方法。目前单拷贝Y-STR基因座广受瞩目,然而,多拷贝Y-STR基因座在Y染色体上有2~4个拷贝,多态性更高,可望作为Y-STR鉴定的重要补充。迄今为止,已报道的多拷贝基因座达几十种,其中包含多个快速突变的基因座。利用各地的人群样本,国内外陆续开展了针对少数多拷贝基因座的遗传多态性研究,其中,国内的此类研究多集中于河南汉族人群,全面的研究工作仍待推进。现有的Y-STR复合扩增体系多数只包含2~3个多拷贝基因座,将大量多拷贝Y-STR基因座纳入复合扩增体系将可能提升系统的检验效能。本文从多拷贝Y-STR基因座的结构特点、突变特点、遗传多态性及复合扩增研究等多方面进行了综合评述,并提出了未来多拷贝Y-STR基因座的研究方向,为Y-STR技术更好地应用于法庭科学领域进行了初步探索。

As one of the most important genetic markers used in forensic science,Y-STR has been widely applied,with its single-copied loci being paid extraordinary attention.However,multi-copied Y-STR loci generally contain 2-4 copies and display high genetic polymorphism,therefore allowing them to be an important replenishment to the current technique.Although there are reports on dozens of multi-copied Y-STR loci,including multiple rapidly-mutating loci,yet these researches only focus a few of them on the genetic diversity.The related studies in China have been mostly carried out on Han population,mainly from Henan province,therefore expecting them to be extended to a wider scope.The present-used multiplexes usually include only 2-3 multi-copied loci.Thus,the inclusion of more multi-copied loci might improve their discrimination power.In this paper,a comprehensive review was made on the studies about the multi-copied Y-STR locus’structure,mutation,allelic frequency and the involved multiplex construction,finally pointing out the directions for future research.