安徽省汉族SLE患者和正常人RANTES单核苷酸多态性及CCR5基因多态性的比较  

The SNPs of chemokine RANTES promoter and the mutation of its' receptor CCR5 in SLE and controls in Han indigenous in Chinese

作　　者：杨仕贵[1] 叶冬青[1] 李向培[2] 胡以松[1] 尹婧[1] 张国庆[1] 朱继民[1] 陈东周[1] 

机构地区：[1]安徽医科大学流行病与卫生统计学系 [2]安徽省立医院风湿科

出　　处：《中华微生物学和免疫学杂志》2003年第9期723-727,共5页Chinese Journal of Microbiology and Immunology

基　　金：安徽省自然科学基金资助 (9843 72 3 1) ;安徽省教育厅重点科研项目 (2 0 0 2kj175ZD) ;安徽省高等学校自然科学基金项目(2 0 0 0J1113 )

摘　　要：目的　探讨中国汉族系统性红斑狼疮 (SLE)患者和正常人群RANTES单核苷酸多态性(SNP)及其受体CCR5多态性。方法　收集 14 6例确诊的SLE患者和 15 9名正常对照。通过PCR RFLP方法检测研究对象RANTES启动区SNP及其受体CCR5△ 32突变频率。结果　病例组RANTES 4 0 3位点G G、G A、A A基因型频率分别为 76 .71%、2 1.92 %、1.37% ;对照组分别为 6 7.30 %、2 9.5 6 %和3.14 % ,两组间基因型分布差异无显著性 (P >0 .0 5 )。两组突变等位基因 4 0 3A频率分别为 12 .3%、17.9% (P >0 .0 5 )。病例组RANTES 2 8位点C C、C G、G G基因型频率分别为 93.15 %、6 .85 %、0 ;对照组分别为 86 .79%、12 .5 8%和 0 .6 3% (P >0 .0 5 )。两组突变等位基因 2 8G频率分别为 3.4 %、6 .9% (P>0 .0 5 )。病例组和对照组突变等位基因CCR5△ 32频率分别为 0、0 .3% (P >0 .0 5 )。中国汉族人群RANTES突变基因型 4 0 3A A低于北美黑人和西非黑人 (P <0 .0 5 ) ,与北美高加索、北美西班牙人和北美亚洲人一致。RANTES 2 8位点基因型分布与北美亚洲人一致 ,但与北美高加索、北美西班牙人、北美黑人和西非黑人相差较大 (P <0 .0 5 )。结论　本次研究发现RANTES 4 0 3位点和 2 8位点单核苷酸多态性与SLE发病没有直接的关系。CCR5△Objective To evaluate frequency and polymorphism of chemokine RANTES and its′ receptor CCR5, and their effects on SLE in indigenous Han Chinese. Methods 146 defined SLE patients and 159 controls were collected. SNPs of RANTES promoter and polymorphism of CCR5 were performed by PCR/RFLP and confirmed by direct DNA sequencing. Results The genotyping frequencies of RANTES-403 G/G, G/A and A/A in SLE were 76.71%, 21.92% and 1.37%, respectively; while the genotyping frequencies of RANTES-403 G/G, G/A and A/A in control were 67.30%, 29.56% and 3.14%, respectively ( P >0.05). There is no significantly difference in the frequency of mutation -403A allele between SLE and controls (12.3% vs 17.9%, P > 0.05 ). The genotyping frequencies of RANTES-28 C/C, C/G and G/G in SLE were 76.71%, 21.92% and 1.37% , respectively, which were not significantly different from those in controls as 67.30%, 29.56% and 3.14% ( P > 0.05 ). There is no significantly difference in the frequency of mutation -28G allele between SLE and controls ( 12.3% vs 17.9%). The frequency of mutation CCR5△32 was 0 in SLE and 0.3% in controls, which was not significantly different ( P >0.05). The frequency of mutation -403A allele in indigenous Han Chinese was significantly lower than that in North American Blacks and West African Blacks ( P <0.05). The frequency of mutation -28G allele in indigenous Han Chinese was different from that of North American Caucasians, North American Blacks, West African Blacks and North American Hispanics, respectively ( P <0.05). Conclusions These results indicate that the SNPs of RANTES promoter and mutation of CCR5△32 are not related to SLE. There are differences of the SNPs of RANTES promoter and the mutation of CCR5△32 in different ethnic populations.

关 键 词：安徽 汉族 SLE患者 正常人 RANTES 单核苷酸 多态性 CCR5 基因 多态性 比较 系统性红斑狼疮 

分 类 号：R373[医药卫生—病原生物学]