髁突骨软骨瘤患者EXT基因的突变检测

中国口腔颌面外科杂志 ›› 2015, Vol. 13 ›› Issue (6): 521-524.

髁突骨软骨瘤患者EXT基因的突变检测

周琴，陈敏洁，杨驰

上海交通大学医学院附属第九人民医院?口腔医学院口腔外科，上海市口腔医学重点实验室，上海 200011

收稿日期:2014-10-31 出版日期:2015-11-20 发布日期:2015-12-03
通讯作者: 陈敏洁，Tel:021-23271699-5545，Fax:021-63135412，E-mail: chenminjie00@126.com
作者简介:周琴（1982-），女，硕士，主治医师，E-mail：qin_zq@163.com
基金资助:
Supported by Research Fund of Shanghai Universities Young Teacher Training Scheme (ZZjdyx13106).

Detection of EXT gene mutations in patients with sporadic osteochondroma of condyle

ZHOU Qin, CHEN Min-jie, YANG Chi.

Department of Oral Surgery, Ninth People’s Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine;Shanghai Key Laboratory of Stomatology. Shanghai 200011, China

Received:2014-10-31 Online:2015-11-20 Published:2015-12-03
Contact: 上海高校青年教师培养资助计划（ZZjdyx13106）

摘要/Abstract

摘要： 目的：对EXT1及EXT2基因在单发性髁突骨软骨瘤中的突变情况进行检测。方法：收集12例手术治疗患者的组织标本，提取基因组DNA，对包含5’UTR 区、编码区、外显子-内含子交界区及3’UTR 区的PCR 产物进行直接测序分析，并将结果与国际数据库中的数据进行对比。结果：发现4个不同的EXT1 基因的单核苷酸多态性（SNPs），其中3个位于内含子区，1个位于编码区，位于编码区的突变为同义突变。该4个多态性位点以前均已报道。3个EXT2基因的SNPs，1个位于编码区，1个位于5’UTR区，1个位于内含子区。编码区突变为同义突变，内含子区突变以前未见报道。结论：EXT1 及EXT2基因突变与单发性髁突骨软骨瘤的相关性可能不大，但其致病情况有待于进一步研究。

关键词: 髁突骨软骨瘤, EXT1, EXT2, 突变

Abstract: PURPOSE : To detect the EXT1 and EXT2 gene mutations in patients with sporadic condylar osteochondromas(OC). METHODS : Genomic DNA was extracted from samples of resected masses of 12 sporadic condylar OC patients. PCR products spanning the coding regions, intron-exon boundaries, 5’and 3’UTR of the genes were sequenced. Variations identified in the sequences were compared with those retrieved from the databases. RESULTS : Four genetic variations of EXT1 were identified, of which 1 was synonymous coding variations, 3 in intronic region. Four variations had been reported before.Three variations of EXT2 were detected, 1 was synonymous coding variations, 1 in intronic region and 1 in 5’UTR. The genetic variations in intronic region of EXT2 were novel. CONCLUSIONS : EXT gene maybe not virulence gene for condylar OC, but further study is required for knowing EXT gene mutation in patients with sporadic condylar OC.

Key words: Condylar osteochondroma, EXT1, EXT2, Mutation

中图分类号:

R739.8

周琴，陈敏洁，杨驰. 髁突骨软骨瘤患者EXT基因的突变检测[J]. 中国口腔颌面外科杂志, 2015, 13(6): 521-524.

ZHOU Qin, CHEN Min-jie, YANG Chi.. Detection of EXT gene mutations in patients with sporadic osteochondroma of condyle[J]. China J Oral Maxillofac Surg, 2015, 13(6): 521-524.

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