bcl-2bcl-x和bax基因多态性与系统性红斑狼疮易感相关性  

The relationship between bcl-2,bcl-x and bax polymorphism and systemic erythematosus lupus susceptibility

作　　者：苏湛[1] 褚嘉祐[2] 许绍彬[2] 史磊[2] 黄小琴[2] 俞建昆[2] 冒长峙[3] 李晓岚[3] 

机构地区：[1]青岛大学医学院附属医院血液科,山东266003 [2]中国协和医科大学中国医学科学院医学生物学研究所遗传室 [3]昆明医学院附属第二医院皮肤科

出　　处：《中华风湿病学杂志》2005年第5期265-268,共4页Chinese Journal of Rheumatology

基　　金：美国纽约中华医学基金会资助项目(CMB98-675);云南省自然科学基金资助项目(2000C009Z)

摘　　要：目的探讨bcl-2、bcl-x和bax基因中7个多态位点同系统性红斑狼疮()是否存在SLE相关性。方法采用引物引入限制性内切酶分析(PIRA-PCR)、四引物扩增阻滞突变系统以及单链构象多态性(SSCP)技术,分析100名正常人和88例SLE患者bcl-2基因的3个单核苷酸多态性(SNP)位点(dbSNP:rs1800477,rs1801018,rs1564483)、bcl-x基因的3个SNP位点(dbSNP:rs6060900,rs6089046,rs5841091)及bax基因的1个微卫星位点。以Logistic回归分析统计实验数据。结果SLE患者组bcl-2基因rs1800477位点的GG基因型频率高于正常人群(P=0.013),rs1564483位点GG基因型频率则低于正常人群(P=0.024);rs1801018位点则无统计学意义。bcl-x和bax的所选位点均没有表现出多态性。结论bcl-2基因rs1800477和rs1564483两位点多态性可能与SLE相关。Objective To explore the correlation of 7 polymorphism loci in bcl-2, bcl-x and bax genes with systemic lupus erythematosus (SLE). Method Primer-introduced restriction analysis PCR (PIRA-PCR), tetra-primers amplification refractory mutation system (ARMS) and single strand conformational polymorphism (SSCP) were applied to detect 3 single nuclear polymorphysm (SNP) loci in bcl-2 gene (dbSNP: rs1800477, rs1801018, rs1564483), 3 SNP loci (dbSNP: rs6060900, rs6089046, rs5841091) in bcl-x gene and a microsatellite in bax gene. Data was analysised with Logistic regression. Result In SLE cases, frequency of GG genotype of rs1800477 was higher than the healthy control (P=0.013) while that of GG genotype of rs1800477 was lower than controls(P=0.024), and rs1801018 had no significant difference between the two groups. But it seemed that the selected loci in bcl-x and bax genes had no polymorphism characteristics. Conclusion Two polymorphism loci, rs1800477 together with rs1564483, probablly correlate to SLE, although the latter lies out of the CDS region.

关 键 词：系统性红斑狼疮 相关性 基因多态性 单核苷酸多态性(SNP) bcl-2基因 Logistic回归 限制性内切酶分析 扩增阻滞突变系统 单链构象多态性 BCL-X基因 bax基因 SLE患者 基因型频率 易感 正常人群 BCL-X SNP位点 微卫星位点 

分 类 号：R593.241[医药卫生—内科学] R541.4[医药卫生—临床医学]