广西壮族及汉族人群CD40L基因rs1126535C/T遗传多态性的研究

Genetic polymorphism of CD40L gene rs1126535C/T in Guangxi Zhuang and Han populations

目的研究CD40L基因rs1126535C/T多态性各基因型及等位基因在广西汉族及壮族人群中的分布频率,比较其在不同种族间分布的异同。方法采用单碱基延伸的DNA测序法和PCR技术检测199例壮族人和199例汉族人的CD40L基因rs1126535C/T多态性,比较两组CD40L基因型及等位基因的分布频率;并结合文献资料进行不同种族间的比较和分析。结果在壮族人中CC基因型占5.53%、CT基因型占6.03%、TT基因型占88.44%;在汉族人中CC基因型占1.51%、CT基因型占4.02%、TT基因型占94.47%。在广西壮族人群和广西汉族人群中,CD40L等位基因的分布频率差异具有统计学意义(P<0.05),而它们的基因型分布频率差异无统计学意义(P>0.05),广西汉族人CD40L基因多态性的分布频率同欧洲、日本和非洲人群进行比较,差异有统计学意义(P<0.05),与北京人基因型分布频率差异无统计学意义(P>0.05),而等位基因分布频率差异有统计学意义(P<0.05)。结论在广西壮族及汉族人群中存在CD40L基因多态性,其等位基因的分布频率差异都具有统计学意义,而它们的基因型分布频率差异无统计学意义,但与其他种族人群比较差异有统计学意义,这种差异对于人类学及群体遗传学的研究可能起非常重要的作用。

Objective To study the distribution frequencies of genotype and allele of CD40 L gene rs1126535C/T polymorphism in Guangxi Zhuang and Han populations,and to analyze the distributions of CD40 Lpolymorphism among different races. Methods The CD40 Lgene rs1126535C/T polymorphisms in199 Zhuang and 199 Han populations were examined by the DNA sequencing and polymerase chain reactionsingle base extension（PCR-SBE）technique.The distribution frequencies of CD40 Lalleles and genotypes in Zhuangs were compared with those in Hans,and compared with other ethnics reportrf in cited literature. Results The frequencies of CC,CT and TT genotypes were 5.53%,6.03% and 88.44%in the Zhuangs;and1.51%,4.0 2% and 94.47% in the Hans,respectively.Compared the frequencies of allele distribution of CD40 Lgene in Zhuangs with the Hans showed that there were statistically significant differences（P〈0.05）,while compared the frequencies of genotype distribution of CD40 Lgene between the Zhuangs and the Hans revealed that there were no significant differences（P〈0.05）.The CD40 Lgene polymorphism distribution frequency in Guangxi Han population were compared with those in Japanese and Europeans and Africans,results showed that there were statistically significant differences（P〉0.05）.And compared the frequency of genotype distribution in Hans of Guangxi with Beijing subjects,results showed that there were not significantly differences（P〈0.05）,but there were significant differences in allele frequency distribution（P〉0.05）.Conclusion There are CD40 Lgene polymorphism in Guangxi Zhuang and Han populations,the allele distribution frequencies of CD40 Lgene were different between the Zhuangs and the Hans,but the frequencies of genotype distribution of CD40 Lgene were similar in the Zhuangs and the Hans,and compared with other ethnic groups there is a significant difference,this difference might play an important role in the study of Anthropology and anthropological research.