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ARSA gene mutations in five Chinese metachromatic leukodystrophy patients
Wang, Jingmin1; Zhang, Weimin1; Pan, Hong1; Bao, Xinhua1; Wu, Ye1; Wu, Xiru1; Jiang, Yuwu1
刊名PEDIATRIC NEUROLOGY
2007-06-01
DOI10.1016/j.pediatrneurol.2007.02.011
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
引用统计
被引频次:6[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53140
专题北京大学第一临床医学院_儿科
北京大学第一临床医学院_中心实验室
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
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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.
APA Wang, Jingmin.,Zhang, Weimin.,Pan, Hong.,Bao, Xinhua.,Wu, Ye.,...&Jiang, Yuwu.(2007).ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.PEDIATRIC NEUROLOGY,36(6),397-401.
MLA Wang, Jingmin,et al."ARSA gene mutations in five Chinese metachromatic leukodystrophy patients".PEDIATRIC NEUROLOGY 36.6(2007):397-401.
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