Lee S D, Shin C H, Kim K B, Lee Y S, Lee J B
Department of Forensic Medicine, Seoul National University College of Medicine, Korea.
Forensic Sci Int. 1997 Jun 6;87(2):99-116. doi: 10.1016/s0379-0738(97)02114-2.
The sequencing data for two mtDNA segments in control region I and II, 385 and 341 nucleotides long, respectively, for 306 unrelated Koreans are presented. In regions I and II, 139 and 58 polymorphic sites, respectively, were noted. These were distributed evenly along the control region, though the frequency of each site was variable. Nucleotide substitution rather than insertion/deletion was the prevalent pattern of variation. A total of 265 different mtDNA lineages in region I and 154 in region II were revealed. This result represents a substantial level of polymorphism in a defined population, and presents the possibility that mtDNA polymorphism could be used as an individual identification marker, especially when nuclear DNA is not available. In view of the complex pattern of variation, meticulous test-sequencing is thought to be more appropriate than RFLP analysis using restriction endonuclease or hybridization using an SSO probe. Racial differences with genealogical usage are also described.
本文展示了306名无血缘关系的韩国人的线粒体DNA（mtDNA）控制区I和II中两个片段的测序数据，这两个片段分别长385和341个核苷酸。在控制区I和II中，分别发现了139个和58个多态性位点。这些位点沿控制区均匀分布，不过每个位点的频率有所不同。核苷酸替换而非插入/缺失是主要的变异模式。在控制区I共发现了265种不同的mtDNA谱系，在控制区II发现了154种。这一结果表明在特定人群中存在相当程度的多态性，并且表明mtDNA多态性有可能用作个体识别标记，尤其是在无法获得核DNA的情况下。鉴于变异模式的复杂性，细致的测试测序被认为比使用限制性内切酶的RFLP分析或使用SSO探针的杂交更为合适。文中还描述了种族差异及其系谱学用途。
