Wu Dan, Nie Yan-Chai, Cao Yu, Cao Yu, Zhou Huai-Gu
Fa Yi Xue Za Zhi. 2014 Feb;30(1):47-9.
To establish a multiplex genotyping system of mtDNA SNP.
A multiplex analysis system of 16-plex mtDNA SNP loci was established with allele specific PCR and capillary electrophoresis 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.
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.
The established multiplex system by allele specific PCR has high sensitivity, operational simplicity and high accuracy. It provides an effective and high output method for mtDNA SNP typing.
建立线粒体DNA单核苷酸多态性（mtDNA SNP）的多重基因分型系统。
采用等位基因特异性PCR和毛细管电泳基因分型技术，建立了16重mtDNA SNP位点的多重分析系统。用该多重系统对50例中国汉族无关个体的样本进行基因分型。通过与直接测序法比较对该多重检测进行验证。
多重系统正确确定了所有50个样本的基因型。输入0.5 - 10 pg DNA时获得了最佳基因分型图谱，分型结果与直接测序法完全一致。
所建立的等位基因特异性PCR多重系统具有高灵敏度、操作简便和高准确性。它为mtDNA SNP分型提供了一种高效、高通量的方法。
