鄂西北地区汉族人群CD40基因单核苷酸多态性分析

目的研究CD40-E1SNP和E4SNP单核苷酸多态性在鄂西北部地区汉族人群中的分布,并探讨CD40基因单核苷酸多态性与血浆可溶性CD40水平的关系。方法 318例汉族人,其中男性187例,女性131例;平均年龄31.2岁。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)及测序的方法,CD40-E1SNP和E4SNP并计算其基因型频率及等位基因频率,酶联免疫吸附分析检测血浆可溶性CD40浓度,并与文献报道不同种族人群比较。结果鄂西北地区汉族人群CD40-E1SNP基因型频率:CC型29.2%,CT型54.1%,TT型16.7%,C、T等位基因频率分别为56.3%、43.7%,这种多态性分布在男女间差异无统计学意义(P>0.05),与英国、波兰比较,发现不同种族间CD40-E1SNP基因型分布及等位基因频率差异均存在统计学意义(P<0.01);CD40-E1SNP各基因表型之间可溶性CD40含量分别为:CC(57.3±6.6)pg/mL,CT(34.2±4.5)pg/mL,TT(28.8±4.2)pg/mL,差异存在统计学意义(P<0.01)。在实验中未检测到CD40-E4SNP单核苷酸多态性。结论鄂西北地区汉族人群中存在CD40-E1SNP单核苷酸多态性,其基因型在不同种族间存在较大的差异,并且可能影响CD40的表达,而不存在CD40-E4SNP单核苷酸多态性。

CD40 single nucleotide polymorphism of the Han population in northwestern Hubei

Objective To study the CD40-E1SNP and E4SNP single nucleotide polymorphism of the Han population in northwestern Hubei,and explore the relationship between CD40 gene single nucleotide polymorphisms and plasma soluble CD40.Methods A total 318 individuals of the han population were enrolled,male 187,female 131,mean age 31.2 yesrs old.The genotype and allele frequencies of CD40-E1SNP and E4SNP were detected by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） and calculated in 318 individuals of the Han population in northwestern Hubei,the concentration of CD40 was detected by ELISA,and compared with reported in different ethnic groups.Results The CD40-E1SNP genotype frequencies of northwestern Hubei：CC type was 29.2 %,CT type was 54.1 %,TT type was 16.7 %,the C,T allele frequencies were56.3 % and 43.7 %.The polymorphism had no significant difference between male and female（P 0.05）.Compared with United Kingdom and Poland,the distributions of CD40-E1SNP genotype were significantly different among ethnics（P 0.01）.CD40 levels in each genotype were CC（57.3 ± 6.6） pg/mL,CT（34.2 ± 4.5） pg/mL and TT（28.8 ± 4.2） pg/mL.The polymorphisms of CD40-E4SNP were not detected in experiment.Conclusion The distributions of CD40-E1SNP are significantly different in various ethnics and may influence the expression of CD40.The CD40-E4SNP may not exist in the Han population of northwestern Hubei.