补体C6 T1674C单核苷酸多态性在中国汉族人群中的分布

Study on the Single Nucleotide Polymorphisms of Human Complement Component 6 T1674c in Chinese Han

目的获得人类补体第六成分(C6)T1674C多态性在中国汉族人群的分布特征。方法采用聚合酶链反应-单链构象多态性(polymerase chain reaction-single strand conformation polymorphism PCR-SSCP)结合核酸测序方法检测150例中国四川泸州汉族人群C6基因T1674C的基因型频率及等位基因频率。结果基因型TT、TC、CC的频率分别为44.67%、23.33%、32.00%,等位基因T、C频率分别为56.33%和43.67%,其基因型频率分布符合Hardy-weinberg平衡定律,个人识别机率为61.7%。结论中国汉族人群C6基因T1674C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 genotypes frequencies and allelic frequencies of human complement component 6 （C6）gene T1674C single nucleotide polymorphism（SNP）in Chinese Han. Methods The C6 T1674C genotypes frequencies in 150 unrelated individuals from Chinese Han in Sichuan Luzhou were studied by polymerase chain reaction-single strand conformation polymorphism（PCR-SSCP） analysis followed by DNA sequencing. Results The genotypes frequencies of TT,TC and CC were 44. 67%,23. 33%.32. 00% respectively, and the allelic frequencies of T and C were 56. 33% and 43.67% respectively, and the distribution of genotypes frequencies in Chinese populations were in accordance with Hardy-Weinberg equilibrium. The discrimination power were 61.7%. Conclusions The human complement component 6 gene T1674C SNP is efficient, reliable and it is valuable for further application in population genetic study and forensic science practice.