【摘要】 目的初步分析散发性激素耐药型肾病综合征(SRNS)儿童的NPHS2和WT1基因突变及其特点。方法选择20例南方汉族散发性SRNS儿童作为实验组,另选50例尿检正常的南方汉族成年人作为对照组。应用PCR、DNA直接测序法、PCR/限制性片段长度多态性进行NPHS2和WT1基因突变分析。结果对20例SRNS儿童NPHS2和WT1基因的全部外显子及其周围的部分内含子进行检测,未发现NPHS2和WT1致病突变,但检测到2个已报道的NPHS2基因多态性(102G>A和954T>C)和6个WT1基因变异(5’-UTR-7G>T、126C>T、IVS3+16G>A、IVS5-64A>G、903A>G和IVS7-32C>A)。其中,IVS5-64A>G为新发现的WT1基因多态性。与对照组比较,实验组的1个NPHS2基因多态性(102G>A)和6个WT1基因多态性的基因型频率和等位基因频率差异无统计学意义(P>0.05)。结论NPHS2和WT1基因突变不是本研究散发性SRNS儿童的主要致病原因。更多还原

【Abstract】 Objective To preliminarily analyze the mutations of NPHS2 and WT1 in children with sporadic steroid-resistant nephrotic syndrome (SRNS) and summarize the characteristics of the mutations. Methods Peripheral blood samples were collected for mutation analysis from 20 Southern Chinese children with sporadic SRNS,and 50 unrelated adult volunteers with normal urine analysis were selected and served as controls. Genomic DNA was isolated from peripheral blood leucocytes. The mutation analysis of NPHS2 and WT1 was performed by polymerase chain reaction,DNA sequencing directly and restriction fragment length polymorphism. Results No mutation was detected in the 20 patients with sporadic SRNS either in NPHS2 or in WT1 of all their exons and exon-intron boundaries,whereas two NPHS2 polymorphisms,102G>A and 954T>C,6 WT1 variants,5’-UTR-7G>T,126C>T,IVS3+16G>A,IVS5-64A>G,903A>G and IVS7-32C>A,were identified in some patients and controls. In addition,IVS5-64A>G seemed to be a novel WT1 polymorphism. There was no significant difference in the genotypic and allelic frequencies of 102G>A of NPHS2,and 5’-UTR-7G>T,126C>T,IVS3+16G>A,IVS5-64A>G,903A>G and IVS7-32C>A of WT1 between the 20 patients and 50 controls,respectively. Conclusion It seems likely that mutations in both NPHS2 and WT1 are not the major causes in inducing sporadic SRNS in Southern Chinese children.更多还原