新一代遗传标记——InDel研究进展

法医DNA分型经历了三代遗传标记的研究,短串联重复序列(short tandem repeat,STR)作为比较成熟的工具已被广泛运用于法医生物学鉴定中。进一步对人类基因组的探索,先后发现了单核苷酸多态性(single nucleotide polymorphism,SNP)、插入/缺失(Insertion/Deletion,InDel)等一系列遗传标记,而其中InDel作为新型的遗传标记,基本兼具各类遗传标记的优点,受到包括医学分子生物学和法医生物学在内各领域的广泛关注。本文就InDel的研究历史与相应的成果进行简单总结与回顾,以时间轴与研究目的为主要的分类指标,重点关注以多个InDel联合作为遗传标记的多重扩增系统(常染色体或X染色体)在法医生物学及人类学研究中的进展,并对今后该领域研究的方向与暨待解决的问题进行了综述。

Progress in InDel as a New Generation of Genetic Marker

As forensic DNA typing experienced three generations of genetic marker researching stage, short tandem repeat （STR） has been widely used in forensic identification as a mature tool. Further ex- ploration of the human genome led to the discovery of polymorphism markers of single nucleotide poly- morphism （SNP） and Insertion/Deletion （InDel）. InDel, which combines the desirable characteristics of previous genetic markers as a new type of genetic marker, has got extensive concern in fields like med- ical molecular biology and forensic biology. This paper generally reviews the history of research and the corresponding results of InDel along the line of time axis as well as the different aims of these research focusing on the progress in the multiple amplification system with several InDel as the genetic marker （autosomal or X chromosome） in forensic biology and anthropology. Finally, the direction of research in this field and the problems to be solved have been put folward.