摘要目的 了解中国朝鲜族群体线粒体DNA(mitochondrial DNA,mtDNA)编码区3954-4506nt的序列多态性.方法 采用PCR产物直接测序方法 对198名吉林省延边朝鲜族自治州朝鲜族无关个体进行单倍型分布调查.结果 在198名无关个体中,共分出21种单倍型.遗传变异度为0.5906,偶合概率为0.4124.测序结果 与Anderson序列比较,共检测出19个变异位点,14个与MITOMAP收录的基因突变相同,5个未见收录.结论 mtDNA编码区多态性位点作为mtDNA控制区多态性位点的补充,联合应用可以提高mtDNA的个体识别能力,为mtDNA在中国朝鲜族法医学鉴定提供了基础数据.

abstractsObjective To investigate the sequence polymorphism of mtDNA coding region encompassing nt3954-4506 in the Korean Chinese population of Yanbian area.Methods Polymerase chain reaction(PCR)and direct sequencing method were used to detect the haplotype distribution of mtDNA coding region in 198 Korean Chinese individuals.Results Twenty-one haplotypes were observed in the 198 unrelated individuals.The genetic diversity was 0.5906 and the random match probability was 0.4124.Compared with the Anderson's sequence.19 nucleotide variants were found,of which 14 were previously registered in MITOMAP,and 5 were novel.Conclusion The obtained data suggest that these sequence polymorphisms are valuable genetic markers for personal identification when combined with mtDAN control region investigation,thus could be used as basic data for the forensic application in Korean Chinese population.