中國南方漢族激素耐藥型腎病綜合征兒童NPHS2基因突變分析
發(fā)布時間：2018-09-09 16:04
【摘要】：第一部分中國南方漢族散發(fā)性激素耐藥型腎病綜合征兒童NPHS2基因突變分析 目的分析中國南方漢族散發(fā)性激素耐藥型腎病綜合征（steroid-resistantnephrotic syndrome，SRNS）兒童NPHS2基因突變及其特點。方法研究對象為52例中國南方漢族散發(fā)性SRNS患兒，對照人群為50例尿檢正常的健康志愿者。取所有研究對象外周靜脈血3ml，提取基因組DNA；PCR擴增NPHS2基因全部外顯子及其周圍的部分內(nèi)含子；應用DNA序列直接測定法對PCR產(chǎn)物進行測序。結(jié)果在1例南方漢族散發(fā)性SRNS患兒中檢出NPHS2基因雜合突變—148CT（R50W），突變檢出率為1.9%。此外，還檢出4個已報道的NPHS2基因多態(tài)性—102AG、288CT、954CT和1038AG；它們在52例SRNS患兒中的基因型和等位基因頻率與其在50例正常對照人群中的基因型和等位基因頻率分別比較，P值均＞0.05。結(jié)論中國南方漢族散發(fā)性SRNS患兒存在NPHS2基因突變，提示對中國南方漢族散發(fā)性SRNS患兒需進行NPHS2基因突變分析。 第二部分中國南方漢族家族性激素耐藥型腎病綜合征家系NPHS2基因突變分析 目的分析中國南方漢族家族性激素耐藥型腎病綜合征（steroid-resistantnephrotic syndrome，SRNS）家系NPHS2基因突變及其特點。方法研究對象為一個中國南方漢族家族性SRNS家系中的先證者及其姐和父母，對照人群為50例尿檢正常的健康志愿者。取所有研究對象外周靜脈血3ml，提取基因組DNA；PCR擴增NPHS2基因全部外顯子及其周圍的部分內(nèi)含子和啟動子區(qū)全長序列；應用DNA序列直接測定法對PCR產(chǎn)物進行測序。結(jié)果本研究在一個中國南方漢族家族性SRNS家系中先證者的NPHS2基因8個外顯子和周圍部分內(nèi)含子及啟動子區(qū)全長未檢出致病突變。在先證者及其姐和父母的NPHS2基因外顯子1檢出1個變異—102AG（G34G），，在NPHS2基因啟動子區(qū)檢出3個變異—-1000AT、-670CT和-537_-531delCTTTTTT。這4個NPHS2基因變異在50例正常對照人群中均有檢出，為已知的NPHS2基因多態(tài)性。結(jié)論NPHS2基因突變不是本研究南方漢族家族性SRNS家系的主要致病原因。
[Abstract]:Part I NPHS2 gene mutation analysis in children with sporadic steroid-resistant nephrotic syndrome in southern China objective to analyze the mutation and characteristics of NPHS2 gene in children with sporadic steroid-resistant nephrotic syndrome (steroid-resistantnephrotic syndrome,SRNS) in southern China. Methods 52 children with sporadic SRNS of Han nationality in southern China and 50 healthy volunteers with normal urine test were enrolled in the study. All exons of NPHS2 gene and some introns were amplified by genomic DNA;PCR from peripheral venous blood of all subjects, and the PCR products were sequenced by direct DNA sequencing. Results the heterozygous mutation of NPHS2 gene -148CT (R50W) was detected in a case of sporadic SRNS of Han nationality in southern China. The detection rate of NPHS2 gene heterozygosity was 1.9%. In addition, four reported polymorphisms of NPHS2 gene -102AGCT-288CT and 1038AGT were detected, and the frequencies of genotypes and alleles in 52 cases of SRNS were compared with those of 50 normal controls (P > 0.05). Conclusion there is a mutation of NPHS2 gene in children with sporadic SRNS of Han nationality in southern China, suggesting that NPHS2 gene mutation should be carried out in sporadic SRNS children of Han nationality in southern China. The second part: NPHS2 gene mutation analysis in the family of Chinese Han family with steroid-resistant nephrotic syndrome objective to analyze the mutation and characteristics of NPHS2 gene in the family of Chinese Han family with sex hormone resistant nephrotic syndrome (steroid-resistantnephrotic syndrome,SRNS). Methods the subjects of the study were proband, sister and parents of a Chinese Han familial SRNS family and 50 healthy volunteers with normal urine test. The whole exon of NPHS2 gene and its surrounding intron and promoter region were amplified by genomic DNA;PCR from peripheral venous blood of all subjects, and the PCR products were sequenced by direct DNA sequencing. Results the pathogenicity of 8 exons and peripheral introns and promoters of the NPHS2 gene was not detected in the proband in a Chinese Han familial SRNS pedigree in southern China. One mutation of -102AG (G34G) was detected in exon 1 of NPHS2 gene of proband, and three mutations were detected in promoter region of NPHS2 gene -1000AT-670CT and -537-531delCTTTT. These four NPHS2 gene mutations were detected in 50 normal controls and were known to be NPHS2 gene polymorphisms. Conclusion mutation of NPHS2 gene is not the main cause of familial SRNS in this study.
【學位授予單位】：福建醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R726.9
本文編號：2232856
[Abstract]:Part I NPHS2 gene mutation analysis in children with sporadic steroid-resistant nephrotic syndrome in southern China objective to analyze the mutation and characteristics of NPHS2 gene in children with sporadic steroid-resistant nephrotic syndrome (steroid-resistantnephrotic syndrome,SRNS) in southern China. Methods 52 children with sporadic SRNS of Han nationality in southern China and 50 healthy volunteers with normal urine test were enrolled in the study. All exons of NPHS2 gene and some introns were amplified by genomic DNA;PCR from peripheral venous blood of all subjects, and the PCR products were sequenced by direct DNA sequencing. Results the heterozygous mutation of NPHS2 gene -148CT (R50W) was detected in a case of sporadic SRNS of Han nationality in southern China. The detection rate of NPHS2 gene heterozygosity was 1.9%. In addition, four reported polymorphisms of NPHS2 gene -102AGCT-288CT and 1038AGT were detected, and the frequencies of genotypes and alleles in 52 cases of SRNS were compared with those of 50 normal controls (P > 0.05). Conclusion there is a mutation of NPHS2 gene in children with sporadic SRNS of Han nationality in southern China, suggesting that NPHS2 gene mutation should be carried out in sporadic SRNS children of Han nationality in southern China. The second part: NPHS2 gene mutation analysis in the family of Chinese Han family with steroid-resistant nephrotic syndrome objective to analyze the mutation and characteristics of NPHS2 gene in the family of Chinese Han family with sex hormone resistant nephrotic syndrome (steroid-resistantnephrotic syndrome,SRNS). Methods the subjects of the study were proband, sister and parents of a Chinese Han familial SRNS family and 50 healthy volunteers with normal urine test. The whole exon of NPHS2 gene and its surrounding intron and promoter region were amplified by genomic DNA;PCR from peripheral venous blood of all subjects, and the PCR products were sequenced by direct DNA sequencing. Results the pathogenicity of 8 exons and peripheral introns and promoters of the NPHS2 gene was not detected in the proband in a Chinese Han familial SRNS pedigree in southern China. One mutation of -102AG (G34G) was detected in exon 1 of NPHS2 gene of proband, and three mutations were detected in promoter region of NPHS2 gene -1000AT-670CT and -537-531delCTTTT. These four NPHS2 gene mutations were detected in 50 normal controls and were known to be NPHS2 gene polymorphisms. Conclusion mutation of NPHS2 gene is not the main cause of familial SRNS in this study.
【學位授予單位】：福建醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R726.9
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