EXT1基因Y271H突变致多发性外生性骨疣  

Novel mutation of Y271H in EXT1 gene causes multiple exostoses

作　　者：李薇[1] 胡正茂[1] 谢志国[1] 何洪波[2] 潘乾[1] 夏昆[1] 夏家辉[1] 

机构地区：[1]中南大学湘雅医院中国医学遗传学国家重点实验室,长沙410078 [2]中南大学湘雅医院骨科,长沙410008

出　　处：《中南大学学报（医学版）》2007年第4期546-550,共5页Journal of Central South University ：Medical Science

基　　金：国家863计划项目(2002BA711A07-08);973计划项目(2004CB518601)~~

摘　　要：目的:经家系分析探索多发性外生性骨疣的相关基因变异。方法:采用聚合酶链式反应结合DNA直接测序法检测EXT1以及EXT2基因的突变热点区域,并利用PCR-RFLP检测技术进行突变筛查。结果:该家系中2例患者的EXT1基因编码区第811位碱基处发生T→C的杂合突变,导致第271位的酪氨酸被组氨酸取代(Y271H),而家系内正常个体无此突变,在100例遗传非相关正常个体中也没有此突变,表明该突变是一种尚未见报道的新突变。结论:EXT1基因的Y271H杂合突变是导致该家系发生多发性外生性骨疣的致病突变。Objective To explore the disease-associated gene mutation of multiple exostoses by family analysis. Methods Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymovphism was performed to screen the mutation. Results We found a novel heterozygous mutation c. 811T →C in EXT1 gene of patients, which resulted in the substitution of histidine for tyrosine at codon 271 in this hereditary multiple exostoses family. The mutation was not found in the unaffected family mem- bers, nor in the 100 unrelated normal individuls, which was unreported before. Conclusion The novel mutation Y271 H is the disease-causing mutation in the hereditary multiple exostoses family.

关 键 词：多发性外生性骨疣 EXT1 限制性片段长度多态性 突变热点 

分 类 号：R681[医药卫生—骨科学]