二代测序技术分析SNP在法医学上的应用

The application of next generation sequencing in SNP analysing in forensic medicine

单核苷酸多态性(single nucleotide polymorphism,SNP)是指在基因组水平上由单个核苷酸变异所引起的脱氧核糖核酸序列多态性。SNP多为双等位型标记,具有分布密度高,突变率低,位置不均匀等特点。在法医领域,SNP广泛应用于身份鉴定、系谱推断、始祖推断和表型推断等场景。但目前第一代测序技术对SNP的分析效率尚不理想。而随着第二代测序技术的逐步发展,SNP的处理效率可以得到极大提升。因此,利用二代测序技术分析SNP在法医学应用上有着巨大潜力和广阔前景。

Single nucleotide polymorphism(SNP)refers to the DNA polymorphism caused by the variation of the single nucleotide in the level of genotype. SNP,as a kind of bialleic marker,is characterised by the high density,low mutation rate and uneven distribution. In the field of forensic medicine,SNP is applied for the inference of identity,lineage,ancestry and phenotype. However,the current first generation sequencing cannot analyze SNP effectively. Owning to the development of next generation sequencing(NGS),SNP processing speed improved greatiy. Therefore,the application of NGS to analyze SNP has great potential and broad prospects in the forensic medicine.