二代测序技术在Y染色体遗传标记分型中的法医学应用

法医遗传学领域常利用Y染色体的父系遗传特点,对非重组区遗传标记进行检测并用于亲缘关系鉴定、混合斑检测、家系排查以及种族推断等研究。目前毛细管电泳仍是应用最为广泛的检测技术,基于该技术的商业化检测试剂盒及数据分析处理系统十分成熟。随着生物信息量的增长,传统检测技术通量低的弊端逐渐显现,推动了法医DNA分型技术的革新。近年来,二代测序(next generation sequencing,NGS)技术发展迅速,其应用已被推广到包括法医遗传学在内的各领域,为Y染色体遗传标记的检测提供了新的技术手段。本文就NGS技术应用于法医学Y染色体遗传标记检测的研究现况和应用前景进行阐述,以期为后续司法实务提供新思路。

Forensic Application of Next Generation Sequencing Technology in the Typing of Y Chromosome Genetic Markers

The paternal inheritance characteristics of Y chromosome have been widely used in the forensic genetics field to detect the genetic markers in the non-recombining block,and used in the studies such as,genetic relationship identification,mixed stain detection,pedigree screen and ethnicity determination.At present,capillary electrophoresis is still the most common detection technology.The commercial detection kits and data analysis and processing system based on this technology are very mature.However,the disadvantages of traditional detection technology have gradually appeared with the rapid growth of bio-information amount,which promotes the renewal of forensic DNA typing technology.In recent years,next generation sequencing(NGS)technology has developed rapidly.This technology has been applied to various fields including forensic genetics and has provided new techniques for the detection of Y chromosome genetic markers.This article describes the current situation and application prospects of the NGS technology in forensic Y chromosome genetic markers detection in order to provide new ideas for future judicial practice.