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目的 了解河北汉族群体线粒体 DNA(mitochondrial DNA,mt DNA) HV1、HV2区重叠片段及编码区 84 30 - 86 73nt的序列多态性。方法 采用聚合酶链反应 -单链构象多态性结合测序方法对 10 0名河北汉族个体进行单倍型分布调查。结果 在河北汉族 10 0名健康无关个体中 ,共分出 91种单倍型。遗传变异度为 0 .9985 ,耦合概率为 0 .0 115。测序结果与 Anderson序列比较 ,共检测出 6 5个变异位点 ,4 4个与 MITOMAP收录的基因突变相同 ,9个与所收录的不同 ,12个未见收录。结论 线粒体 DNA在河北汉族群体中有较好的多态性分布 ,是法医学个人识别和母系亲属认定良好的遗传标记 ,为 mt DNA在河北法医学鉴定提供了基础数据。
Objective To understand the polymorphisms of the overlap region of HV1 and HV2 regions and the coding region of 84 30 - 86 73 nt in mitochondrial DNA (mt DNA) of Hebei Han population. Methods The haplotype distribution of 10 Han nationality individuals in Hebei province was investigated by polymerase chain reaction-single strand conformation polymorphism and sequencing. Results A total of 91 haplotypes were isolated from 10 healthy unrelated individuals in Hebei Han nationality. The genetic variation was 0.9985 and the coupling probability was 0. 0 115. Sequencing results compared with Anderson sequence, detected a total of 65 mutation sites, 4 4 and MITOMAP included mutations in the same gene, 9 with the included different, 12 were not included. Conclusion Mitochondrial DNA has a good polymorphism distribution in Hebei Han population. It is a good genetic marker for forensic identification and maternal relatives. It provides the basic data for the identification of mt DNA in Hebei forensic science.