延边地区汉族群体线粒体DNA编码区五个部分序列多态性

Five coding region polymorphism of mitochondriai DNA in Chinese Han population of Yanbian area

目的了解中国汉族群体线粒体DNA（mitochondrialDNA，mtDNA）5个编码区3954～4506nt、5218~5974nt、7942~871Int、10296410653nt及14496~14867nt的序列多态性。方法采用PCR产物直接测序方法，对200名吉林省延边地区汉族无关个体进行序列多态性变化和单倍型分布调查。结果在200名无关个体中，共分出110种单体型。遗传变异度为0．9879，偶合概率为0．0171。测序结果与Anderson标准序列比较，共检测出81个变异位点，其中66个与MITOMAP收录的基因突变相同，15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。而且可为中国汉族群体的法医学个人识别、亲权鉴定及民族遗传学研究提供宝贵的基础数据资料。

Objective To investigate the mitochondrial DNA（mtDNA） five coding region sequence polymorphisms encompassing positions nt3954-4506, nt5218-5974, nt7942-8711, nt10296 10653, and nt14496-14867 in Chinese Han population of Yanbian area, Jilin province. Methods Polymerase chain reaction （PCR） and direct sequencing method were used to detect the haplotype distribution of mtDNA coding region in 200 unrelated Chinese Han individuals. Results One hundred and ten haplotypes were observed in the 200 individuals. The gene diversity was 0. 9879 and the random match probability was 0. 0171. Compared with the Anderson＇s sequence, 81 nucleotide variants were obtained, of which 66 were previously registered in MITOMAP,and 15 were novel. Conclusion The obtained data suggest that these sequence polymorphisms are valuable genetic markers for personal identification when added to mtDAN control region investigation, and thus could he used as basic data for the forensic application in Chinese Han population.