基于下一代测序的全解析度STR分型研究进展与展望

Progress and Prospects on Next Generation Sequencing-Based Full Resolution STR Genotyping

下一代测序技术具有高通量、高速度、集成化、低成本等显著优势,近年来已在科研和临床诊断领域得到广泛应用,在法医遗传学领域亦具有重要应用前景。当前主流的STR分型方法仅关注序列的长度多态性,然而由于核心重复结构存在差异或扩增区段内存在SNP,序列长度相等的等位基因可能是具有遗传稳定性的完全不同的等位基因,此类STR序列多态性是个体识别或亲缘关系分析的宝贵资源。基于下一代测序的STR分型在现有数据输出方式基础上,允许进一步关注STR的序列多态性,对STR基因座进行全解析度分型,显著提升STR基因座的个体识别能力。本文以法医STR遗传标记和下一代测序技术为关注焦点,系统综述基于下一代测序的全解析度STR分型领域国际最新研究进展,深入探讨该技术在法医DNA实验室的实际应用潜力和可能面临的挑战,希冀对相关研究和实践提供参考。

Next generation sequencing （NGS）, also known as massively parallel sequencing （MPS）, withsignificant advantages such as high throughput, rapidness, integration and low cost, has been widely used in researchand clinical diagnosis fields and promises bright future for forensic applications. Compared with traditional DNAsequencing methods, NGS technologies allow the simultaneous detection of various forensic genetic markers.Theclassical CE-based STR genotyping method only can differentiate alleles with length polymorphism. However, thereare occasions like DNA base substitution and repeat sequence variations, which give different alleles with the samesize of amplicons. These alleles are heritable from parents to off-springs, and could be of great importance for solvingcriminal cases. NGS-based STR genotyping can be compatible with current STR data output mode, and allows for thefull resolution of STR loci by providing additional sequencing polymorphism information. In this article, the authorsfocused on the forensic STR genetic markers and next generation sequencing, and reviewed recent progresses onNGS-based STR genotyping. Perspectives of NGS-based full resolution STR genotyping were presented and possiblechallenges were discussed in the hope of providing a reference for related studies and applications.