【摘要】 目的探讨T细胞受体保守域α链基因(TCRCα)-575A/G多态性与原发性肾病综合征临床和病理的相关性,从基因水平探讨原发性肾病综合征的发病机制。方法利用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)来鉴定基因型,以检测原发性肾病综合征患者和正常对照组TCRCα-575A/G多态性分布规律。收集一般临床指标和患者的病理资料,进行病例对照研究与临床病理资料分析。结果 2组均检出A、G 2种TCRCα-575A/G等位基因,3种组合基因型AA型、AG型、GG型。2组分布频率无显著性差异。临床资料显示:年龄、性别、血压、血脂、血白蛋白、血肌酐水平中任何基因型的分布频率无显著性差异,AA基因型的原发性肾病综合征患者的蛋白尿水平较AG和GG基因型明显升高(P均<0.05)。病理资料显示:AA基因型在微小病变型肾病患者中有较高的出现频率,与GG+AG基因型比较有显著性差异(P<0.05)。AA基因型和A等位基因的原发性肾病综合征患者治疗有效率明显高于其他基因型(P均<0.05)。结论 TCRCα-575A/G基因多态性与原发性肾病综合征的发病易感性不相关,可能与较重的蛋白尿、微小病变型肾病发病、激素疗效相关。更多还原

【Abstract】 Objective It is to investigate the clinical and pathological relationship of TCRCα-575A /G polymorphism with primary nephrotic syndrome,to explore the causes of primary nephrotic syndrome from gene level. Methods The genotypes were detected by polymerase chain reaction-restriction fragment-length polymorphism analysis to find the regularity of distribution of TCRCα-575A / G polymorphism in normal control subjects and the patients with primary nephrotic syndrome. At the same time,general clinic indexes and patients’ pathologic information were collected to make control study and clinic pathologic analysis. Results TCRCαgene(-575A / G) include 3 genotype( AA,AG,GG) and 2 allele gene( A or G) were find out in both groups. There was no significant difference in genotypes distribution,and allele frequency between primary nephrotic syndrome and normal control subjects( P > 0. 05). No correlation was found in the-575A / G polymorphism of TCRCα with sex,age,blood pressure,ALB,CHOL,TG and SCr level. The albuminuria level of AA genotype was higher than that of AG or GG genotypes( P < 0. 05). The pathologic data showed that the AA genotype frequency was higher than GG + AG genotype frequency in patients with minimal change nephrotic syndrome( P < 0. 05). The effective rate of primary nephrotic syndrome of AA genotype and A allele both were higher than that of the other genetype( P < 0. 05). Conclusion TCRCα-575A / G polymorphism may be associated with severe albuminuria and minimal change nephrotic syndrome and the curative effect of hormone,however,this polymorphism was not associated with susceptibility to primary nephrotic syndrome.更多还原