16个线粒体DNASNP复合检测体系的建立

目的建立一种复合检测线粒体DNA（mtDNA）单核苷酸多态性（SNP）分型的方法。方法通过设计等位基因特异性引物并结合毛细管电泳分型技术平台，建立包含16个mtDNASNP位点的复合扩增检测体系。对50名汉族无关个体血样进行mtDNASNP检测，并通过直接测序法对其分型结果进行验证。结果50个样本经本检测体系复合扩增后，均得到清晰的SNP分型结果，当模板量在0．5～10pg时能得到较理想的分型图谱。样本的复合检测结果与直接测序法结果完全一致。结论建立的复合检测体系检测mtDNASNP方法灵敏度高、操作简便、分型准确，为针对mtDNA进行简便、有效的中高通量多态性分型提供了一种新方法。

Establishment of the Multiplex Genotyping System for 16 SNP Loci on mtDNA

Objective To establish a multiplex genotyping system of mtDNA SNP. Methods A multiplex analysis system of 16-plex mtDNA SNP loci was established with allele specific PCR and capillary elec trophoresis genotyping technology. Fifty samples from unrelated Chinese Han individuals were typed with the multiplex system. The multiplex assay was validated by comparing with the direct sequencing method. Results The genotypes of all 50 samples were correctly determined by the multiplex system. The optimal genotypic graphs were obtained with an input DNA of 0.5-10 pg, and the typing results were completely consistent with those by direct sequencing method. Conclusion The established multi- plex system by allele specific PCR has high sensitivity, operational simplicity and high accuracy. It pro vides an effective and high output method for mtDNA SNP typing.