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目的分析先天性肾病综合征(CNS)患儿的NPHS1基因突变及其特点。方法研究对象为1例中国中部地区汉族CNS患儿及其父母,对照人群为50例尿检正常的汉族成年人。取所有研究对象外周静脉血3ml,提取基因组DNA,PCR扩增NPHS1和NPHS2基因全部外显子及其周围的部分内含子序列,对PCR产物进行直接DNA序列测定。结果在CNS患儿中未检出NPHS2基因突变,检测出NPHS1基因的G928A(D310N)和IVS11+1 G>A 2个杂合突变。患儿母亲尿检正常,基因检测显示NPHS1的G928A(D310N)杂合突变,没有IVS11+1 G>A杂合突变;患儿父亲尿检也正常,基因检测显示NPHS1的IVS11+1 G>A杂合突变,而没有G928A(D310N)杂合突变。在50例对照人群中未发现NPHS1的G928A(D310N)和(或)IVS11+1 G>A突变。结论 1例散发性CNS患儿中检测到NPHS1基因的G928A(D310N)和IVS11+1G>A 2个杂合突变,且IVS11+1 G>A为NPHS1基因剪接位点新突变。CNS患儿应进行NPHS1基因突变分析。
Objective To analyze the mutations of NPHS1 gene in children with congenital nephrotic syndrome (CNS) and its characteristics. METHODS: One case of CNS children and their parents in central China was enrolled. The control group consisted of 50 Han normal adults. All the subjects were collected peripheral venous blood 3ml, genomic DNA was extracted, PCR amplification of NPHS1 and NPHS2 gene exons and its surrounding part of the intron sequences, PCR products were determined by direct DNA sequencing. Results No NPHS2 gene mutation was detected in children with CNS. Two heterozygous mutations of G928A (D310N) and IVS11 + 1 G> A of NPHS1 gene were detected. There was no heterozygous mutation in GHS28A (D310N) in NPHS1 and there was no heterozygous mutation in IVS11 + 1 G> A. The urine test was also normal in the father of the children, and the gene test showed that the heterozygosity of IVS11 + 1 G> A in NPHS1 Mutation without the G928A (D310N) heterozygous mutation. No NPHS1 G928A (D310N) and / or IVS11 + 1 G> A mutation was found in 50 control subjects. Conclusion Two heterozygous mutations of G928A (D310N) and IVS11 + 1G> A of NPHS1 gene were detected in one sporadic CNS patient, and IVS11 + 1 G> A was a new mutation in the NPHS1 gene splicing site. CNS children should be NPHS1 gene mutation analysis.