mtDNA SNPs研究方法进展及法医学应用现状

摘要

SNPs是不同个体基因组DNA序列中单个核苷酸的差异所致序列多态性,是继RFLP和STR标记发展起来的新一代遗传标记系统.线粒体是细胞内的惟一核外基因组,对于核DNA分型失败样本、降解样本、毛发(干)、指甲、骨骼等生物检材具有良好的实际应用价值.本文对目前线粒体SNPs分型最常用的技术及方法,如MALDI-TOF MS、SNaPshot~(TM)、焦磷酸测序、Illumina GoldenGate测序、Illumi-na Infinium测序、Taqman探针、SNPlex、SNPstream、分子信标技术及其在法医学实际应用进行了综述.%Single nucleotide polymorphism (SNP) is defined as a single nucleotide difference giving rise to sequence polymorphism among individuals, as a new genetic marker following RFLP and microsatellite polymorphisms. Mitochondrial DNA (mtDNA) is a unique genomic DNA outside cell nucleus, and is very use-ful in the situation of analyzing failed samples of STR genotyping, degraded samples, hair (shafts), and finger nails in the long run. Here, new mtDNA SNP genotype technologies, including MALDI-TOF MS, SNaPshot~(TM) assay, Illumina GoldenGate assay, lllumina lnfinium assay, Taqman, SNPIex, SNPstream, molecular beacons, and their application in forensic medicine were reviewed.