中国汉族人群补体C6 A413C单核苷酸多态性的研究

STUDY ON SINGLE NUCLEOTIDE POLYMORPHISMS OF HUMAN COMPLEMENT C6 A413C IN HAN PEOPLE

目的:获得人类补体第六成分(C6)A413C单核苷酸多态性在中国汉族人群的分布特征。方法:特异性扩增C6基因第三外显子,采用聚合酶链反应-单链构象多态性(polymerasechainreaction-singlestrandconformationpolymorphismPCR-SSCP)结合核酸测序方法检测150例中国四川泸州汉族人群C6A413C多态性的基因型频率及等位基因频率。结果:基因型AA、AC、CC的频率分别为22.00%、42.67%、35.33%,等位基因A和C的频率分别为43.33%和56.67%,其基因型频率分布符合Hardy-weinberg平衡定律,个人识别机率为63.5%。结论:中国汉族人群C6基因A413C多态性个人识别能力高,重复性好,在人类遗传学研究及法医学个人识别中有较好的应用价值。

Objective： To obtain the genotype frequencies and allelic frequencies of human complement C6 gene A413C single nucleotide polymorphism（SNP）in Hans.Methods： The C6 A413C genotype frequencies in 150 unrelated individuals from Hans in Luzhou Sichuan were studied by polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP）analysis followed by DNA sequencing.Results：The genotype frequencies of AA.AC and CC were 22.00%.42.67%.35.33% respectively,the allelic frequencies of A and C were 43.33% and 56.67% respectively, and the distribution of genotype frequencies in Han population were in accordance with Hardy-Weinberg equilibrium, the discrimination power were 63.5%.Conclusion：The human complement C6 A413C polymorphism is efficient, reliable and it is valuable for further application in population genetic study and forensic science practice.