Yu M S, Qiu X F, Xue J L, Liu Z D, Tan J Z, Li H J, Liu D X, Li L, Yu W Z
Institute of Genetics, Fudan University, Shanghai.
Sci China B. 1989 Apr;32(4):468-77.
A simple method for the identification of mutational sites in human mitochondrial DNA (mtDNA) was described. It was based on the human Cambridge sequence as a relative standard sequence and a single base pair substitution in mtDNA as a unique mutational form. The partial mutational sites can be determined using this method which was characterized by combining the restriction mapping with the analysis for the table of human mtDNA potential mutational sites with rapidity and simplicity. In the meanwhile, six mtDNA mutational sites found in Chinese population were identified by means of this method.
描述了一种鉴定人类线粒体DNA（mtDNA）突变位点的简单方法。该方法以人类剑桥序列作为相对标准序列，以mtDNA中的单碱基对替换作为唯一的突变形式。通过将限制性图谱与人类mtDNA潜在突变位点表分析相结合，该方法具有快速简便的特点，可确定部分突变位点。同时，利用该方法鉴定出了中国人群中发现的6个mtDNA突变位点。
