广西壮族及汉族人群CD40基因rs4810485 G/T遗传多态性

The genetic polymorphism of CD40 gene in Guangxi Zhuang and Han populations

目的研究CD40基因rs4810485 G/T多态性各等位基因及基因型在广西地区壮族及汉族人群中的分布频率,比较其在不同种族间分布的差异。方法采用单碱基延伸的PCR技术和DNA测序法检测195例壮族人和200例汉族人的CD40基因rs4810485 G/T多态性,比较两组CD40基因型及等位基因的分布频率;并结合文献进行不同种族间的比较分析。结果在壮族人中GG基因型占24.1%、GT基因型占49.2%、TT基因型占26.7%;在汉族人中GG基因型占30.0%、GT基因型占47.0%、TT基因型占23.0%。在广西壮族及汉族人群中CD40基因多态性的分布频率差异均无显著性(P>0.05),但与波兰人、英国人及西班牙人比较,CD40基因多态性的分布频率均存在显著性差异(P<0.05)。结论在广西地区壮族及汉族人群中存在CD40基因多态性,其基因多态性的分布频率差异无显著性,但与其他种族人群比较存在显著性差异。这种差异对于人类学的研究可能起重要的作用。

Objective To study the frequencies of allele and genotype distribution of CD40 gene rs4810485 G/T polymorphism in Guangxi Zhuang and Han populations, and to analyze the distributions of CD40 polymorphism among different ethnic groups. Methods The CD40 gene rs4810485 G/T polymorpbism was examined by the polymerase chain reaction-single base extension （PCR-SBE） technique and DNA sequencing methods in 195 Zhuang and 200 Han populations. Genotype and allele frequencies of CD40 were compared between Zhuang and Han populations,as well as with other different races. Results The frequencies of GG, GT and TT genotypes were 24.1%, 49.2% and 26.7% in the Zhuangs, and 30.0%, 47.0% and 23.0% in the Hans, respectively. The frequencies of allele and genotype distribution of CD40 gene were not significant difference between the Zhuangs and the Hans （P 〉 0.05）. Compared with Spanish and Russian populations, the CD40 polymorphism was significantly difference （P 〈 0.05）. Conclusion There are CD40 gene polymor- phism in Guangxi Zhuang and Han populations. The frequencies of polymorphism distribution of CD40 gene were not significant difference between the Zhuang and Han populations. Whose distributions are significantly difference compared with others ethnic populations. It might play an important role for anthropological research.