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学科主题: 临床医学
题名:
A novel mutation of NPHS2 identified in a Chinese family
作者: Yu, ZH; Ding, J; Guan, N; Shi, Y; Zhang, JJ; Huang, JP; Yao, Y; Yang, JY
关键词: steroid-resistant nephrotic syndrome ; NPHS2 ; podocin ; focal segmental glomerulosclerosis ; Chinese
刊名: PEDIATRIC NEPHROLOGY
发表日期: 2004-11-01
DOI: 10.1007/s00467-004-1585-y
卷: 19, 期:11, 页:1285-1289
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Pediatrics ; Urology & Nephrology
研究领域[WOS]: Pediatrics ; Urology & Nephrology
关键词[WOS]: FOCAL SEGMENTAL GLOMERULOSCLEROSIS ; RESISTANT NEPHROTIC SYNDROME ; PODOCIN MUTATIONS ; GLOMERULAR PROTEIN ; CHILDREN ; FEATURES ; NEPHRIN ; GENE
英文摘要:

Since the identification of the NPHS2 gene, which encodes podocin, several groups from European, Middle Eastern, and North American countries have reported NPHS2 mutations in families with steroid-resistant nephrotic syndrome (SRNS) or focal segmental glomerulosclerosis (FSGS). Families with SRNS have also been reported in China with a population of more than 1.3 billion. However, to our knowledge, there is no mutational analysis of the NPHS2 gene in familial SRNS or FSGS in China. We identified a novel mutation of NPHS2 (467_468insT and 503G>A) in a Chinese family with autosomal recessive SRNS using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing techniques. The results demonstrate that there is also NPHS2 mutation in Chinese familial SRNS. Therefore, Chinese SRNS patients with a familial history of NS should also be screened for possible mutations of NPHS2. We also detected clearly decreased staining with a specific podocin C-terminal antibody (P35) and negative staining with a specific podocin N-terminal antibody (P21). These results were contrary to those predicted from the mutated sites. Further studies are needed to explore the mechanism and impact of the mutant gene on the expression and localization of the relevant protein.

语种: 英语
WOS记录号: WOS:000224615000018
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61845
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
Yu, ZH,Ding, J,Guan, N,et al. A novel mutation of NPHS2 identified in a Chinese family[J]. PEDIATRIC NEPHROLOGY,2004,19(11):1285-1289.
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