先天性肾病综合征基因突变与狼疮肾炎蛋白尿的关系探讨

The relationship between NPHS1 gene mutation and protein in lupus nephritis

目的 探讨NPHS1基因突变中Finmajor和Finminor突变与狼疮肾炎 (LN)蛋白尿发生的关系。方法 选择 90例活动期狼疮肾炎患者 ,根据蛋白尿程度分为两组 :Ⅰ组 :尿蛋白≥ 3 5 g/ 2 4h ,Ⅱ组 :尿蛋白 <3 5g/ 2 4h。对照组为 10 8名健康自愿者。上述所有受试者均采空腹静脉血 5ml,分离白细胞 ,- 70℃保存 ,利用聚合酶链反应 限制性片段长度的多态性法 (PCR RFLP)检测Finmajor和Finminor突变。结果 Finminor突变携带者 ,对照组 3例 ,病例组 9例 ,其中Ⅰ组 8例 ,Ⅱ组 1例 ,与对照组相比 ,病例组及病例Ⅱ组P均 >0 0 5 ,无统计学意义 ;Ⅰ组与对照组及Ⅱ组相比P均 <0 0 5 ,差异具有显著性。病例组与对照组均未发现纯合子Finminor突变及Finmaior突变。

Objective To explore the correlation between Fin major or Fin minor mutation and proteinuria in lupus nephritis (LN).Method According to proteinuria,90 patients with LN in active stage were classified into two groups:group Ⅰ:proteinuria ≥3 5 g/24h;group Ⅱ:proteinuria <3 5 g/24h.One hundred and eight healthy volunteers were selected as control.Five ml venous blood were obtained from all subjects and then Fin major and Fin minor mutations were detected by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP).Results There were 3 carriers of Fin minor mutation among control group and 9 among LN group,in which 8 cases belong to group Ⅰ,1 case belong to group Ⅱ.LN group comparing to control group,no significance was found, P >0 05,group Ⅱ comparing to control,also no significance was found, P >0 05;group Ⅰ comparing to control group or group Ⅱ,significance was found, P <0 05.Homozygous Fin minor mutation and Fin major mutation were not found among control group or LN group.Conclusion Fin minor mutation may be correlated to proteinuria in LN.