目的:研究谷胱甘肽硫转移酶(GSTs)活性与基因多态性在难治性肾病综合征(RNs)患者中的分布特征。方法:运用等位基因特异性PCR(ASPCR)和PCR限制性片段长度多态性(PCRRFLP)的方法分析健康人和难治性肾病综合征患者谷胱甘肽硫转移酶基因型;用紫外分光光度法分别测定两者红细胞GSTs活性。结果:RNS患者的GsTs基因型分布与健康者差异无显著性;难治性肾病综合征患者GSTs活性与健康人存在差异,难治性肾病综合征患者平均GsTs活性(5.9±2.O)u/gHb高于健康人(4.3±2.6)U/gHb,杂合子I/V基因型组的平均GSTs活性比野生1/1基因型的GST活性低,比突变v/v基因型的GSTs活性高。在RNS患者中,GSTM1基因型之间GSTs活性差异不大。结论:借鉴健康人的基因型研究结果,综合分析RNS患者GST的活性和基因多态性特征,为疾病个体化治疗提供研究基础。
OBJECTIVE To investigate the distribution of glutathione S-transferase genotype and phenotype polymorphism in nephrotic syndrome patients compared with healthy subjects. METHODS Used allele specific PCR (ASPCR) and PCR-restric- tion fragment length polymorphism (PCR-RFLP) method for analysis of genotype of glulathione S-transferase in healthy sub- jects and in patients with refractory nephrotic syndrome; both red blood cell activities of GSTs were determined by UV spectro- photometry. RESULTS GSTs genotype distribution in RNS patients and healthy subjects had no significant difference; The GSTs activities in patients with refractory nephrotic syndrome were different with that in healthy subjects. In patients with re- fractory nephrotic syndrome the GSTs average activity (5.9 + 2./)) U.g-' Hb was higher than that in healthy subjects (4. 3 + 2. 6) U.g ~Hb. In GSTM1 genotype group,GSTMI ( - ) GSTs group activity and GSTMI ( + ) group GSTs activity was no significant difference; To GSTP1 genotype of the three groups,activity of I/V heterozygote gene group was higher than the ac- tivity of homozygous mutant gene, and lower than wild genotype. CONCLUSION Compared with the genotype findings in healthy subjects,a comprehensive analysis of GST activity and the characteristics of gene polymorphism in patients with RNS, may provide the research basis for individual treatment of the disease.