CAJ | 학술논문

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个已报道的 SNP 位点(rs1079292;rs3738423;rs1410592;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.
목적연구월동지구산발성신병종합정(nephrotic syndrome,NS)환인NPHS2기인적다태성,위조기예측해지구원발성 NS 환인대상규격소치료적반응성급예후제공방조.방법취합매련반응법확증기인조 DNA,직접측서분석25례산발성신병종합정환인 NPHS2기인적다태성.결과25례환인적NPHS2기인중8개외현자균미검측출착의돌변,재외현자1,2,8중발현4개이보도적 SNP 위점(rs1079292;rs3738423;rs1410592;rs3818587).결론재이검측적25례월동산발성신병종합정환인중 NPHS2기인미견유편마구돌변,제시NPHS2돌변불시해지구산발성신병종합정환인발병적주요치병원인.
@@@@ 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 of NPHS2 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 eastern Guangdong.