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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

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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.
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