遗传性多发性骨软骨瘤基因突变检测:附一家系报告  

A novel mutation of EXT gene in a pedigree with hereditary multiple exostoses

作　　者：李怀远[1] 李玉婵[2] 王剑[1] 傅启华[1] 

机构地区：[1]上海交通大学医学院附属上海儿童医学中心检验科,上海200127 [2]上海交通大学医学院附属上海儿童医学中心骨科,上海200127

出　　处：《临床儿科杂志》2009年第12期1144-1146,共3页Journal of Clinical Pediatrics

摘　　要：目的对1例遗传性多发性骨软骨瘤(HME)家系的EXT1和EXT2基因编码序列进行突变检测,寻找引起该家系HME的致病基因突变。方法PCR扩增先证者EXT1和EXT2的各外显子及其侧翼序列,PCR产物经割胶纯化后,直接测序分析。结果DNA测序分析发现,先证者EXT1基因第1外显子有一新的杂合缺失-插入突变(651-664delinsTTT),致使EXT1基因编码蛋白218位后的氨基酸发生移码突变,在220位处提前出现终止密码(K218fsX220),使编码的EXT1蛋白为截断型蛋白。家系调查发现,该突变来自于先证者母亲。先证者EXT2基因没有发现变异。结论EXT1基因651-664delinsTTT杂合突变,是引起该家系HME的分子机制。Objective To investigate EXT gene sequence in a pedigree with hereditary multiple exostoses （HME） and identify the causative mutation in the pedigree. Methods All the cxons and their flanking sequences of EXT1 and EXT2 genes were amplified by PCR from prohand＇s genomic DNA, PCR products were purified and sent for direct sequencing. Results A novel insertion-deletion （651 - 664 delins TTT） mutation in exon 1 of EXT1 gene was found, the_mutation resulted in a frameshift at amino acid position 218 and a premature stop codon at position 220 （K218 fs X220） in the EXT1 protein. The mutation also lead to a truncated protein. Family study results showed that this mutation came from the proband＇s mother. No variant was found in EXT2 gene of this proband. Conclusions 651 - 664 delins TTT heterozygous mutation in EXT1 gene was the molecular mechanism of HME for this pedigree.

关 键 词：遗传性多发性骨软骨瘤 EXT基因 突变 

分 类 号：R738[医药卫生—肿瘤]