Genetic markers in forensic DNA typing experienced the variable number of tandem repeats （VNTR） sequences and the short tandem repeats （STR） sequences. With the emerge of sequencing technology, the third generation of genetic markers were found out, which usually have two alleles including single nucleotide polymorphism （SNP） and insertion/deletion （InDel）, also known as biallelic genetic markers. Because of the insertions or deletions of DNA fragments, InDel genetic marker reveals DNA fragment length polymorphism and widely distributes across the whole genome. InDel genetic marker is numerous and has the characteristics of STR and SNP genetic markers, which has been applied in the fields of genetics and anthropology. This review focuses on the research progress of InDel genetic marker in forensic science, aiming to review and summarize the main research findings in recent years and provide clues for future researches.
摘要: 法医DNA分型的遗传标记经历了可变数目串联重复（variable number of tandem repeat，VNTR）序列和短串联重复（short tandem repeat，STR）序列。随着测序技术的产生，出现了第三代遗传标记，因其基因座通常只有两个等位基因，故又被称为二等位基因遗传标记，主要包括单核苷酸多态性（single nucleotide polymorphism，SNP）和插入/缺失（insertion/deletion，InDel）。由DNA片段插入或缺失形成的DNA长度多态性InDel遗传标记分布于整个基因组中，数目众多，兼具STR和SNP遗传标记的优势，现已应用于遗传学、人类学等领域。本文主要对InDel遗传标记在法医学领域的研究进展进行综述，旨在回顾和总结近年来的主要研究成果并为后续研究提供参考。.
关键词: 法医遗传学；遗传标记；综述；插入/缺失.
Keywords: forensic genetics; genetic marker; insertion/deletion; review.
Copyright© by the Editorial Department of Journal of Forensic Medicine.