北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 儿科  > 期刊论文
学科主题: 临床医学
题名:
ARSA gene mutations in five Chinese metachromatic leukodystrophy patients
作者: Wang, Jingmin1; Zhang, Weimin1; Pan, Hong1; Bao, Xinhua1; Wu, Ye1; Wu, Xiru1; Jiang, Yuwu1
刊名: PEDIATRIC NEUROLOGY
发表日期: 2007-06-01
DOI: 10.1016/j.pediatrneurol.2007.02.011
卷: 36, 期:6, 页:397-401
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Pediatrics
研究领域[WOS]: Neurosciences & Neurology ; Pediatrics
关键词[WOS]: ARYLSULFATASE ; ONSET
英文摘要:

The objective was to identify arylsulfatase A mutations, if any, in five Chinese patients with metachromatic leukodystrophy. This would be the first such study in China. All eight exons and exon-intron boundaries of the arylsulfatase A gene (ARSA) were amplified with polymerase chain reaction, which was followed by direct DNA sequencing. Patient 1 exhibited a homozygous mutation at c.954G > A (p.W318X) in exon 5. Patient 2 exhibited compound heterozygous mutations, identified as one allele with the c.862C > T (p.R288C) missense mutation in exon 5 and the other allele with the c.1338dupC frameshift mutation in exon 8. Patient 3 exhibited only a c.179-180dupCA frameshift mutation in exon I in one allele. Patients 4 and 5 exhibited identical compound heterozygous mutations, identified as one allele with the c.296G > T (p.G99V) missense mutation and the other allele with the c.251G > A (p.R84Q) missense mutation in exon 2. Six DNA variants of the arylsulfatase A gene were identified: two novel frameshift mutations (c.179-180dupCA and c.1338dupC), one known nonsense mutation (p.W318X), and three known missense mutations (p.R84Q, p.G99V, and p.R288C). (c) 2007 by Elsevier Inc. All rights reserved.

语种: 英语
WOS记录号: WOS:000247544300008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53140
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 1.Peking Univ, First Hosp, Dept Pediat, Beijing 100034, Peoples R China
2.Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing 100730, Peoples R China
3.Peking Union Med Coll, Beijing, Peoples R China

Recommended Citation:
Wang, Jingmin,Zhang, Weimin,Pan, Hong,et al. ARSA gene mutations in five Chinese metachromatic leukodystrophy patients[J]. PEDIATRIC NEUROLOGY,2007,36(6):397-401.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Wang, Jingmin]'s Articles
[Zhang, Weimin]'s Articles
[Pan, Hong]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Wang, Jingmin]‘s Articles
[Zhang, Weimin]‘s Articles
[Pan, Hong]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace