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目的研究一家系中国人遗传性多发性骨软骨瘤基因突变状况,并对该家系中无临床症状的患儿进行诊断。方法收集、整理、分析该家系临床资料,应用PCR反应及扩增产物直接测序技术对先证者及其家系成员进行EXT2基因检测,并对相关文献进行回顾。结果家系中6人均发现了EXT2基因c.514C>T突变,其中5例患者有症状,1例患儿生后29小时尚无表现,该突变在中国人中首次发现。该突变位于第2外显子,为无义突变。结论 EXT2基因c.514C>T突变是导该家系发生HME的致病基因。
Objective To study the gene mutation status of hereditary multiple osteochondroma in a Chinese pedigree and to diagnose the pediatric patients without clinical symptoms. Methods The clinical data of this pedigree were collected, analyzed and the EXT2 gene of probands and their family members was detected by PCR reaction and direct sequencing of amplification products. The related literatures were reviewed. Results The mutation of c.514C> T of EXT2 gene was found in 6 of the pedigrees. Among them, 5 patients had symptoms and 1 patient had no symptoms at 29 hours after birth. The mutation was found in Chinese for the first time. This mutation is located in exon 2, a nonsense mutation. Conclusion The c.514C> T mutation of EXT2 gene is the causative gene of HME in this pedigree.