中国遗传性多发性骨软骨瘤的临床资料及突变检测1例报告  

Clinical phenotype and mutation analysis of EXT1 and EXT2 genes in one hereditary multiple exostosis family

作　　者：屈波[1] 罗卓荆[1] 杨柳[1] 靳小兵[1] 

机构地区：[1]解放军第四军医大学西京医院全军骨科研究所,陕西省西安市710032

出　　处：《中国临床康复》2004年第5期814-816,共3页Chinese Journal of Clinical Rehabilitation

基　　金：国家自然科学基金委与香港研究资助局共同联合资助的国际合作项目(3001161944)~~

摘　　要：目的:通过对1例中国遗传性多发性外生骨软骨瘤(hereditarymultipleexostosis,HME)家系临床资料的整理及在EXT18q23～24.1,EXT211p11～12的基因编码序列进行突变检测,寻找HME的致病基因,为发现该病临床表现的遗传学特点及发现新的基因突变以期待此研究可能预防遗传性多发性外生骨软骨造成患者肢体功能残存的发生。方法:在EXT1、EXT2基因内设计引物,经PCR和DNA测序对基因编码序列及其临近内含子进行突变检测。结果:在EXT1、EXT2的编码序列内没有发现突变。结论:排除了EXT1、EXT2为该遗传性多发性外生骨软骨瘤家系治病基因的可能,为进一步研究发现新的基因突变提供了可能。AIM:To detect the virulence genes of hereditary multiple exostoses(HME) and the clinical phenotype characters of one large Chinese family with hereditary multiple exostoses by ecoding the gene sequences in EXT1 8q23-24.1, EXT2 11p11-12 so as to find a clinical feature of HME and novel mutation for the future research in preventing the formation of cartilage capped prominences developed from HME. METHODS:PCR and DNA sequencing were subject to detect the possible mutations in EXT1 and EXT2 coding sequence and splice junction intron sequences. RESULTS:No mutations were detected in EXT1 and EXT2 coding sequences. CONCLUSION:EXT1 and EXT2 are excluded as the virulence gene of HME in the Chinese HME family,which provide probability to find the novel gene.

关 键 词：中国 遗传性多发性骨软骨瘤 基因突变 检测 遗传学 基因编码 

分 类 号：R738.3[医药卫生—肿瘤] R394[医药卫生—临床医学]