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目的分析中国南方汉族1例散发性先天性肾病综合征(CNS)患儿NPHS1基因突变及其特点。方法研究对象为1例中国南方汉族CNS患儿及其父母,对照人群为50例尿液检查正常的南方汉族成年人。取所有研究对象外周静脉血3 mL,提取基因组DNA,PCR扩增NPHS1全部29个外显子及其周围的部分内含子和启动子全长序列,对PCR产物直接进行DNA序列测定。结果在CNS患儿检测出NPHS1基因3250insG(V1084fsX1095)纯合突变,其父母分别携带3250insG杂合突变。在CNS患儿及其父母还检测出3种已报道的NPHS1基因多态性——349G>A、3315G>A和IVS27+45C>T。在50例对照人群中未发现NPHS1基因3250insG变异;但检测出349G>A、3315G>A和IVS27+45C>T基因多态性。结论首次在1例中国南方汉族CNS患儿发现了NPHS1基因纯合突变——3250insG(V1084fsX1095),表明中国南方汉族散发性CNS患儿存在NPHS1基因突变,提示对中国南方汉族散发性CNS患儿需进行NPHS1基因突变分析。
Objective To analyze the mutations of NPHS1 gene in children with sporadic congenital nephrotic syndrome (CNS) in southern Han Chinese and its characteristics. METHODS: One case of CNS children and their parents in Southern Han Chinese were enrolled. The control subjects were 50 normal Han Chinese adults with urine test. All the peripheral venous blood samples were collected from 3 mL of genomic DNA, and all 29 exons of NPHS1 and its partial intron and promoter sequences were amplified by PCR. The PCR products were directly sequenced. Results The homozygous mutation of 3250insG (V1084fsX1095) of NPHS1 gene was detected in children with CNS and their parents carried 3250insG heterozygous mutation respectively. Three reported NPHS1 gene polymorphisms --349G> A, 3315G> A and IVS27 + 45C> T were also detected in children with CNS and their parents. No NPHS1 gene 3250insG mutation was found in 50 control subjects; however, 349G> A, 3315G> A and IVS27 + 45C> T gene polymorphisms were detected. Conclusions A homozygous mutant of NPHS1 gene, 3250insG (V1084fsX1095), was found for the first time in a CNS child of Han nationality in southern China, indicating that there is NPHS1 gene mutation in children with sporadic CNS in southern Chinese Han population. NPHS1 gene mutation analysis.