人脑星型细胞瘤神经细胞黏附分子基因突变分析  

Mutation analysis of neural cell adhesion molecules in human astrocytoma

作　　者：王延金[1] 向娟娟[2] 方加胜[1] 

机构地区：[1]中南大学湘雅医院神经外科,长沙400008 [2]中南大学肿瘤研究所,长沙400078

出　　处：《中南大学学报（医学版）》2009年第6期510-514,共5页Journal of Central South University ：Medical Science

基　　金：国家自然科学基金(30600636)~~

摘　　要：目的:了解神经细胞黏附分子(neural cell adhesion molecule,NCAM)基因突变在人脑星型细胞瘤发生中的作用。方法:对NCAM基因的外显子进行聚合酶链反应-单链构象多态性分析(polymerasechain reaction-single strand conformation polymorphism,PCR-SSCP),找出可疑突变,回收PCR产物纯化测序及序列分析,ORF finder软件分析蛋白质序列。结果:43例星型细胞瘤中有1例胶质母细胞瘤NCAM7号外显子1126号核苷酸由A颠换为C,导致369号氨基酸由赖氨酸变为谷氨酰胺,该病人1年后死于复发。结论:NCAM基因点突变导致的蛋白质结构改变在星型细胞瘤的发生中可能有重要意义。Objective To identify the function of neural cell adhesion molecule（NCAM） mutation in the genesis of human glioma.Methods Mutations were found through polymerase chain reaction-single strand conformation polymorphism,and then the changed DNA fragments were purified and multiplied and sent to Shanghai for sequencing.Blast and ORF finder were used to find out the amino changes in NCAM.Results An A-C transversion was found at position 1 126 in NCAM＇s 7 exon in a patient with glioblastoma from 43 astrocytoma.Conclusion Structural change in the protein caused by point mutation may be the reason for tumorigenesis of astrocytoma.

关 键 词：星型细胞瘤 神经细胞黏附分子 点突变 

分 类 号：R739.4[医药卫生—肿瘤]