Objective To examine mutation of NPHS2 gene in 30 sporadic Chinese children with steroid - resistant nephrotic syndrome (SRNS) ,and to investigate the possible role of NPHS2 gene in SRNS. Methods Thirty eligible patients(19 male, 11 female)and 20 healthy children were included in this study. Genomic DNA was directly isolated from peripheral blood samples,and subjected in touchdown PCR to amplify all 8 exons of NPHS2 gene. Variation analysis was performed by direct sequencing of one strand of each exon with an automated sequencer. Results No mutation of NPHS2 gene was found in either patients or controls. Three sequence variations as known single nucleotide polymorphism(SNP)(288C >T heterozygous in exon 2.954T>C heterozygous,954T >C homozygous and 1038A >G heterozygous in exon 8) were observed. The allelic frequencies of 288C >T(C/T) were93%/7% ;954T>C(T/C) as 80%/20% ;1038A > G( A/G) as90%/10%. There was not statistically significant between the 2 groups of SNP gene frequency and genotype differences (P > 0.05). There was no significant difference in the genotypic and allelic frequencies of these polymorphisms between patients and controls. Conclusion There is not enough association of the NPHS2 gene polymorphisms with SRNS in children of south China.%目的 分析激素耐药型肾病综合征(SRNS)患儿NPHS2基因突变及其特点.方法 收集30例SRNS患儿(男19例,女11例)和20例健康儿童病例资料.采集SRNS患儿外周血2～4 mL,采用盐析法提取其基因组DNA.采用PCR方法扩增NPHS2基因,对PCR产物进行测序.结果 受试者均未检测到NPHS2基因突变；其中发现11例SRNS患儿和4例健康儿童存在单核苷酸多态性(SNP),均为已报道的SNP:288C＞T的等位基因频率(C/T)分别为93％、7％;954T＞C的等位基因频率(T/C)分别为80％、20％；1038A ＞G的等位基因频率(A/G)分别为90％、10％,2组间各SNP的基因频率和基因型比较差异均无统计学意义(Pa＞0.05)；检测出SNP的患儿与未检出SNP的患儿其临床特征亦无统计学差异(P＞0.05).结论 NPHS2基因多态性可能不是中国南方儿童SRNS的遗传学基础.
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