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Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome
Sun, Huihui; Zhang, Yuehua; Liu, Xiaoyan; Ma, Xiuwei; Yang, Zhixian; Qin, Jiong; Jiang, Yuwu; Qi, Yu; Wu, Xiru
关键词As-pcr De Novo Mutation Ds Mutation Scn1a
刊名JOURNAL OF HUMAN GENETICS
2010-07-01
DOI10.1038/jhg.2010.39
55期:7页:421-427
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者Beijing Natural Science Foundation of China ; Beijing Natural Science Foundation of China
研究领域[WOS]Genetics & Heredity
关键词[WOS]SEVERE MYOCLONIC EPILEPSY ; PATERNAL ORIGIN ; INFANCY ; GENE
英文摘要

Dravet syndrome (DS) or severe myoclonic epilepsy of infancy is an intractable epileptic syndrome that is caused by mutations in the neuronal voltage-gated sodium channel alpha 1 subunit gene SCN1A. We investigated SCN1A mutations in 63 Chinese patients with DS and analyzed its inheritance. Genomic DNA was extracted from peripheral blood lymphocytes of DS patients and their available parents. The SCN1A open reading frame sequence was analyzed by PCR-DNA sequencing and multiple ligation-dependent probe amplication (MLPA). If the mutation was de novo, we used allele-specific PCR (AS-PCR) to determine the parental origin. Of the 63 patients examined, 49 unrelated patients had SCN1A mutations. The mutation rate was 77.8% (49 of 63), in which 61.2% (30 of 49) were truncation mutations. The mutations included 19 missense mutations, 14 frame-shift mutations, 6 nonsense mutations, 8 splice-site mutations. Through MLPA analysis, deletions or duplications of large fragments accounted for 12.5% (2 of 16) in PCR-sequencing-negative patients. By testing parents for the mutation, 40 mutations were found to be de novo and one mutation was inherited from a mother who was mosaic for a mutation. By AS-PCR analysis in 12 patients with de novo mutations, 10 were confirmed paternal in origin and 2 were maternal in origin. Thirty of the SCN1A mutations reported here have not been previously reported. Approximately 80% of Chinese DS patients have SCN1A mutations. MLPA analysis was essential for PCR-sequencing-negative patients. The majority of SCN1A mutations were de novo, most of which were paternal origin. Journal of Human Genetics (2010) 55, 421-427; doi:10.1038/jhg.2010.39; published online 30 April 2010

语种英语
所属项目编号7072083
资助者Beijing Natural Science Foundation of China ; Beijing Natural Science Foundation of China
WOS记录号WOS:000280326700005
引用统计
被引频次:16[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/400002259/51012
专题北京大学第一临床医学院_儿科
作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
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GB/T 7714
Sun, Huihui,Zhang, Yuehua,Liu, Xiaoyan,et al. Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome[J]. JOURNAL OF HUMAN GENETICS,2010,55(7):421-427.
APA Sun, Huihui.,Zhang, Yuehua.,Liu, Xiaoyan.,Ma, Xiuwei.,Yang, Zhixian.,...&Wu, Xiru.(2010).Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.JOURNAL OF HUMAN GENETICS,55(7),421-427.
MLA Sun, Huihui,et al."Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome".JOURNAL OF HUMAN GENETICS 55.7(2010):421-427.
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