bcl-2 bcl-x和bax基因多态性与系统性红斑狼疮易感相关性

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(SLE)是否存在相关性。方法 采用引物引入限制性内切酶分析(PIRA-PER)、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，rsl801018．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。

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

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.