粤东地区散发性肾病综合征患儿NPHS2基因多态性分析

目的研究粤东地区散发性肾病综合征（nephrotic syndrome，Ns）患儿NPHS2基因的多态性，为早期预测该地区原发性NS患儿对常规激素治疗的反应性及预后提供帮助。方法聚合酶链反应法扩增基因组DNA，直接测序分析25例散发性肾病综合征患儿NPHS2基因的多态性。结果25例患儿的NPHS2基因中8个外显子均未检测出错义突变，在外显子1，2，8中发现4个已．捆重的SNP位点（rsl079292；rs3738423；rsl410592：rs3818587）。结论在已检测的25例粤东散发性肾病综合征患儿中NPHS2基因未见有编码区突变，提示NPHS2突变不是该地区散发性肾病综合征患儿发病的主要致病原因。

Polymorphisms of NPHS2 gene in sporadic nephrotic syndrome children of eastern Guangdong

Objective To study the polymorphisms of podocin coding NPHS2 gene in sporadic primary nephrotic syndrome （NS） children of eastern Guangdong in order to predict the responsiveness of steroid therapy and prognosis. Methods Genome DNA was amplified by PCR. Polymorphisms ofNPHS2 gene in 25 sporadic nephrotic syndrome children were examined by direct sequencing. Results There was no missense mutation being detected in exons 1-8 of NPHS2 in 25 sporadic NS children. Four polymorphisms （rs1079292; rs3738423; rs1410592; rs3818587） were detected among exon 1, 2, 8. Conclusion In 25 sporadic NS children of eastern Guangdong there was no missense mutation being detected in coding domain sequence, which indicated that mutation of NPHS2 was not the primary pathogeny of sporadic nephrotic syndrome children in eastem Guangdong.