C-Papers


论文题名
椎管内神经鞘瘤NF2基因的突变分析
Title
Analysis of NF2 gene mutations in intraspinal Schwannomas
作者
刘树义;陈实;张开创;林健;杨庆武;张永亮;刘水源;刘盛泽
Institution
[刘树义] 厦门大学附属福州第二医院神经外科;[陈实] 厦门大学附属福州第二医院神经外科;[张开创] 厦门大学附属福州第二医院神经外科;[林健] 厦门大学附属福州第二医院神经外科;[杨庆武] 厦门大学附属福州第二医院神经外科;[张永亮] 厦门大学附属福州第二医院神经外科;[刘水源] 厦门大学附属福州第二医院神经外科;[刘盛泽] 厦门大学附属福州第二医院神经外科
期刊名称
中华医学遗传学杂志
CN
ISSN
1003-9406
出版日期
2017-10-10
Volume
34
Issue
5
YM
637-641
GJZ
椎管内神经鞘瘤; NF2基因; 蛋白质一级结构; 移码突变
Keywords
Intraspinal Schwannomas; NF2 gene; Primary structure of protein; Frame; shift mutation
LWZY
目的探索椎管内神经鞘瘤中NF2基因的突变情况。方法收集20例散发型椎管内神经鞘瘤组织样本,采用PCR和Sanger测序法筛查NF2基因的突变。结; 果在20例样本中,共检测到4个NF2基因突变,即c.1213_1231delTGAGCAGGAAATGCAGCGC、c.752delC、c.51; 9_556delATAAATCTGTACAGA; TGACTCCGGAAATGTGGGAGGA和c.255delT,并证实其均为新发突变,突变率为20%。在患者外周血中未检测到相同突变。上述突变; 均为移码突变,可导致蛋白质一级结构的改变。突变组与未突变组患者年龄分别为(60.257.37)岁、(52.4410.16)岁,两组差异无统计学意; 义(P>0.05);两组肿瘤的直径分别为(2.830.31)cm、(2.310.32)cm,二者之间的差异亦无统计学意义(P>0.05)。结论散; 发型椎管内神经鞘瘤的发生和发展与NF2基因的突变关系密切。该基因突变可能导致编码蛋白质氨基酸序列的改变,导致蛋白质空间结构改变和生物活性的丧失,; 进而导致疾病表型。
Abstract
Objective To explore the correlation between intraspinal Schwannomas and; mutations of the NF2 gene. Methods Samples from 20 patients with; sporadic intraspinal Schwannomas were collected and subjected NF2 gene; mutation detection by PCR amplification and Sanger sequencing. Results; Four de novo frameshifting mutations of the NF2 gene were discovered in; the tumor tissues, which included c.1213_ 1231delTGAGCAGGAAATGCAGCGC,; c.752delC,c.519 _ 556delATAAATCTGTACAGATGACTCCG-GAAATGTGGGAGGA and; c.255delT. The same mutations were not found in the peripheral blood; samples of the corresponding patients. The mutations have resulted in; alteration of primary structure of the protein. No significant; difference was found in the age [(60.257.37) vs. (52.4410.16), P>0.05]; or diameters of tumor [(2.83 0.31) cm vs. (2.310.32) cm, P>0.05]; between patients with or without the mutations. Conclusion The; occurrance and evolvement of sporadic intraspinal Schwannomas have a; close relationship with mutations of the NF2 gene. The latters may; result in structural change and functional loss of the encoded protein; and lead to the disease phenotype in the patients.
Ref
Fund_Code
福建省自然科学基金; 福州市科技计划项目; 福州市卫生计生系统科技计划项目
FileName
10.3760/cma.j.issn.1003-9406.2017.05.003

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