摘要目的 研究广东地区原发性激素耐药型肾病综合征(SRNS)患儿NPHS2和CD2AP基因变异情况,探讨NPHS2和CD2AP基因变异与SRNS发病的关系,为儿童SRNS的临床诊治提供理论依据.方法 随机选取26例广东地区原发性SRNS患儿和20例健康儿童,对其NPHS2基因8个外显子和CD2AP基因18个外显子的PCR产物进行直接测序,所得结果与美国国立生物技术信息中心(NCBI)的基因数据库进行比对,检测基因变异情况.结果 26例患儿中14例SRNS患儿和4例健康对照组儿童存在NPHS2单核苷酸多态性(288C ＞T,954T＞C,1038A＞ G),均为已报道的单核苷酸多态性,但2组之间的基因型和等位基因频率比较差异均无统计学意义(P均＞0.05)；所测SRNS患儿中仅有2例检测出CD2AP基因1个内含子区突变(1917 +20C＞G).结论 NPHS2基因变异可能并非中国广东地区SRNS患儿发病的主要机制；CD2AP基因内含子突变可能增加患儿对早发性SRNS和局灶节段性肾小球硬化的易感性,提示内含子可能参与SRNS的发病.

abstractsObjective To study NPHS2 and CD2AP gene mutation with primary steroid-resistant nephroticsyndrome (SRNS) children in Guangdong province,and to investigate the relationship between NPHS2,CD2AP genemutation and SRNS,so as to provide a theoretical basis for the diagnosis and treatment of SRNS in children.Methods Twenty-six SRNS children and 20 cases of the healthy children as controls were chosen randomly in Guangdong province.Genomic DNA was isolated from peripheral blood leucocytes of these patients and the healthy children.Mutational analysis was performed in 8 exons of NPHS2 gene and 18 exons of CD2AP gene after sequencing directly.The results were compared with United States National Center for Biotechnology Information (NCBI) gene database,the detected gene mutation.Results The variation analysis revealed 3 polymorphisms (288C ＞ T,954T ＞ C,1038A ＞ G) in 14 cases out of 26 patients and 4 cases of the healthy children studied,which had been reported before,but there was no significant difference in the genotypic and allelic frequencies of these polymorphisms between the patients and the controls (all P ＞ 0.05).One CD2AP heterozygous mutation (1917 + 20 C ＞ G) was detected in intron in 2 cases of SRNS children.Conclusions NPHS2 gene variation may not be the main mechanism of SRNS in Guangdong province.CD2APgene mutation may increase the possibility of SRNS and focal segmental glomerulosclerosis in children.CD2AP mutation in intron may involve in the pathogenesis of SRNS.