广西壮族及汉族人群CD40配体基因rs3092923G/A和rs3092929A/C遗传多态性的研究

Genetic polymorphism of CD40 ligand gene rs3092923G/A and rs3092929A/C in Guangxi Zhuang and Han populations

目的探讨CD40配体基因rs3092923G/A和rs3092929A/C多态性位点在广西壮族及汉族人群中的分布,同时比较其基因型及等位基因频率分布在不同种族人群之间以及同一种族不同性别之间存在的差异。方法采用单碱基延伸PCR的检测方法,分析201名广西汉族人和199名广西壮族人的CD40配体基因rs3092923G/A和rs3092929A/C多态性。结果在广西壮族人群中,CD40配体基因rs3092923G/A位点AA、AG与GG基因型频率和rs3092929A/C位点AA、AC与CC基因型频率均为86.4%、7.5%和6.0%,rs3092923G/A位点的A、G等位基因频率和rs3092929A/C位点的A、C等位基因频率均为90.2%、9.8%;在广西汉族人群中,CD40配体基因rs3092923G/A位点AA、AG与GG基因型频率和rs3092929A/C位点AA、AC与CC基因型频率均为93.0%、4.0%、3.0%,rs3092923G/A位点的A、G等位基因频率和rs3092929A/C位点的A、C等位基因频率均为95.0%、5.0%。将这2个多态性位点基因型分布频率在2个民族人群中比较,差异均无显著性(P均>0.05),而等位基因频率却有着显著性差异(P均<0.05)。另外,将这2个位点多态性分布频率在男女性别之间作比较,差异都没有显著性(P均>0.05)。进一步与人类基因组计划公布的4个人群相比,广西汉族人群的rs3092923G/A和rs3092929A/C 2位点基因型和等位基因频率与非洲、日本、欧洲和北京人群比较,差异都具有显著性(P均<0.05)。结论在广西地区壮族及汉族人群中存在着CD40配体基因多态性。广西汉族人群CD40配体基因多态性的分布频率同其他种族人群比较存在着显著性差异,这种差异可能是导致与CD40配体相关的疾病在不同种族人群间的临床表现以及发病率存在明显不同的原因之一。

To analyze gene polymorphism at rs3092923G/A and rs3092929A/C of CD40 ligand in Guangxi Zhuang and Han populations, and compare the distributions of allele and genotype frequencies among different races and different gender in the same race, we use the method of polymerase chain reaction-single base extension（PCR-SBE） to detect the frequency of CD40 ligand gene rs3092923G/A and rs3092929A/C allele and genotype in201 Guangxi Han and 199 Guangxi Zhuang populations. Data showed that the genotype frequencies of AA, AG and GG of rs3092923G/A and the genotype frequencies of AA, AC and CC of rs3092929A/C were 86.4%, 7.5% and6.0%, and the allele frequencies of A, G of rs3092923G/A and the allele frequencies of A, C of rs3092929A/C were all 90.2% and 9.8% in the Zhuang population. In addition, the genotype frequencies of AA, AG and GG of rs3092923G/A and the genotype frequencies of AA, AC and CC of rs3092929A/C were 93.0%, 4.0% and 3.0%, and the allele frequencies of A, G of rs3092923G/A and the allele frequencies of A, C of rs3092929A/C were all 95.0%and 5.0% in the Han population. Moreover, the frequencies of genotype distribution of CD40 ligand gene rs3092923G/A and rs3092929A/C polymorphism were not significant difference between the Zhuang and the Hanpopulations（ P〉0.05）, but the frequencies of allele were significant difference（P〈0.05）. There were no significant difference of the frequencies and the allele and genotype of rs3092923G/A and rs3092929A/Cpolymorphism between male and female group in the Guangxi population（P〉0.05）, but there were significant difference as compared with Hap Map-YRI, Hap Map-JPT, Hap Map-CEU and Hap Map-HCB（both P〉0.05）. In conclusion, there is CD40 ligand gene polymorphism in Guangxi Zhuang and Han populations; the frequencies of polymorphism distribution of CD40 ligand gene are significantly difference between Guangxi Han populations and others ethnic populations; the variation of CD40 ligand gene polymorphism among different ethnic groups might account for the varied clinical manifestations and incidence rate of some CD40 ligand related diseases.