| 中国南方汉族散发性先天性肾病综合征NPHS1基因突变1例 |
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| 引用本文： | 王道静,余自华,孟大川,黄隽,聂晓晶. 中国南方汉族散发性先天性肾病综合征NPHS1基因突变1例[J]. 实用儿科临床杂志, 2011, 26(5): 336-338 |
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| 作者姓名： | 王道静 余自华 孟大川 黄隽 聂晓晶 |
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| 作者单位： | 1. 福建医科大学福州总医院临床医学院,儿科,福州,350025;南京军区福州总医院,儿科,福州,350025
2. 南京军区福州总医院,儿科,福州,350025 |
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| 基金项目： | 福建省自然科学基金(2006J0119); 南京军区医学科学技术研究“十一·五”计划课题(06MA148,06MA151);南京军区医学科技创新课题(08MA102) |
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| 摘 要： | 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.
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| 关 键 词： | 先天性肾病综合征 NPHS1基因 突变 汉族人 |
Mutation of NPHS1 Gene in A Child with Congenital Nephrotic Syndrome in Southern Chinese Han Ethnic Group |
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| WANG Dao-jing , YU Zi-hua , MENG Da-chuan , HUANG Jun , NIE Xiao-jing. Mutation of NPHS1 Gene in A Child with Congenital Nephrotic Syndrome in Southern Chinese Han Ethnic Group[J]. Journal of Applied Clinical Pediatrics, 2011, 26(5): 336-338 |
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| Authors: | WANG Dao-jing YU Zi-hua MENG Da-chuan HUANG Jun NIE Xiao-jing |
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| Affiliation: | WANG Dao-jing~1,2,YU Zi-hua~1,MENG Da-chuan~1,HUANG Jun~2,NIE Xiao-jing~2(1.Department of Pediatrics,Fuzhou Clinical Medical College,Fuzhou General Hospital,Fujian Medical University,Fuzhou 350025,Fujian Province,China,2.Department of Pediatrics,Fuzhou General Hospital of Nanjing Command,China) |
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| Abstract: | Objective To analyze the mutations and characteristics of NPHS1 gene in a child with congenital nephrotic syndrome(CNS) in Southern Chinese Han ethnic group. Methods Peripheral blood samples were collected for genetic analysis from the child with CNS and his parents with normal urinalysis,and 50 unrelated adult volunteers whose urinalysis were normal in Southern Chinese Han ethnic group stu-dies as the controls.Genomic DNA was isolated from peripheral blood leucocytes.Twenty-nine exons and exon-intron bound... |
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| Keywords: | congenital nephrotic syndrome NPHS1 gene mutation Han ethnic group |
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