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学科主题: 神经病学
题名:
细丝蛋白C肌病基因存在新的插入缺失突变
其他题名: Filaminopathy caused by a novel deletion-insertion mutation in filamin C gene
作者: 洪道俊; 栾兴华; 郑日亮; 张巍; 袁云
关键词: 肌疾病 ; 收缩蛋白质类 ; 微丝蛋白质类 ; 基因缺失 ; 突变 ; Muscular diseases ; Contractile proteins ; Microfilament proteins ; Gene deletion ; Mutation
刊名: 中华神经科杂志
发表日期: 2009
DOI: 10.3760/cma.j.issn.1006-7876.2009.11.013
卷: 42, 期:11, 页:758-761
收录类别: 中国科技核心期刊 ; CSCD
文章类型: Journal Article
摘要: 目的 报道在1个细丝蛋白C(filamin C,FLNC)肌病家系中发现的新的插入缺失突变.方法 该家系连续5代共有19例患者,临床和病理资料在前期研究中已经作为肌原纤维肌病进行了报道.现对包括先证者在内的3例患者、5名无症状家系成员和50名健康人进行FLNC基因的测序,利用质粒将FLNC基因的第18号外显子扩增产物进行克隆分离,然后进行电泳鉴定和直接测序.结果 先证者的FLNC基因的第18号外显子存在18个正常碱基缺失,同时插入6个异常碱基,导致FLNC蛋白第7个免疫球蛋白样杆状重叠结构异常,继而致FLNC蛋白结构的失稳.家系中另2例患者存在同样的突变,而5名无症状家系成员和50名健康对照均正常.结论 FLNC肌病存在FLNC基因第18号外显子新的插入缺失突变,我们发现该病可以出现在德国之外的其他种族. Objective To report filaminopathy with novel insertion mutation in a Chinese family.Methods Total 19 patients from successive 5 generations involved in an autosomal dominant family. The detailed clinical manifestations had been described (Chinese Journal of Neurology, 2008, 41:751-755).The filamin C gene sequencing was performed in 3 patients, 5 family members without symptoms and 50 normal persons. The amplified fragments of the exon 18 in filamin C gene were cloned into pBluesripts vectors, then sequenced and identified with capillary electrophoresis. Results 18-nucleotide deletion and 6-nucleotide insertion were identified in the exon 18 of filamin C gene. The mutation caused the disturbance of the seventh immunoglobulin-like domain in filamin C, leading to the instability of dimmers of filamin C.Another 2 patients in the family had same mutation while 5 family members without symptoms and 50 normal controls were normal. Conclusion The novel nucleotide deletion-insertion in exon 18 of filamin C gene causes filaminopathy. This disease can appear in non-Nordic race.
语种: 中文
原文出处: 查看原文
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内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/41012
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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作者单位: 北京大学第一医院神经内科,100034
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