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目的 了解雌激素受体 (estrogen receptor,ER)基因多态性在狼疮性肾炎 (lupus nephritis,L N)患者中的分布特点 ,以及不同 ER基因型 L N患者的临床病理特征。方法 用聚合酶链反应 -限制性酶切长度多态性分析方法 ,对 2 45例 L N患者 (男 5 8例 ,女 187例 )基因组 DNA中 ER基因多态性进行观察 ,并比较了不同性别 L N患者与正常对照间 ER基因多态性的分布特点。在此基础上进一步比较了不同性别狼疮患者中 3种常见 ER基因型携带者的临床病理特征。结果 ER基因多态性在男女性狼疮患者中的分布差异有显著性 ,男性 L N患者中 ER基因 Pp Xx型的出现频率较女性患者及正常男性显著增多。女性 L N患者中 ER基因各型出现频率与正常女性的差异无显著性 ,但 3种常见基因型携带者的临床病理表现却具有一定差异。结论 ER基因多态性的分布在不同性别的 L N患者中具有显著差异 ,男性 L N患者 Pp Xx基因型的携带率明显高于女性患者和正常男性对照。提示该基因型与男性 L N的易感性相关 ,且不同 ER基因型的 L N患者在临床表现及病理改变上有一定特点。
Objective To investigate the distribution of estrogen receptor (ER) gene polymorphism in patients with lupus nephritis (L N) and the clinicopathological features of L N patients with different ER genotypes. Methods The polymorphism of ER gene in genomic DNA of 245 cases of LN (including 58 males and 187 females) was observed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Distribution of ER gene polymorphism in patients with LN and normal controls. On this basis, we further compared the clinicopathological characteristics of three common ER genotype carriers in patients with lupus. Results There was significant difference in the distribution of ER gene polymorphism between male and female lupus patients. The frequency of Pp Xx ER gene expression in male L N patients was significantly higher than that in female patients and normal males. The frequencies of ER genotypes in female L N patients were not significantly different from those in normal women, but there were some differences in the clinicopathological features among the three common carriers of L genotypes. Conclusion The distribution of ER gene polymorphism is significantly different in L N patients of different genders. The carrying rate of Pp Xx genotypes in L N patients was significantly higher than that in female patients and normal male controls. Suggesting that the genotype is associated with susceptibility to L N in men and that L N patients with different ER genotypes have some characteristics of clinical manifestations and pathological changes.