颅骨锁骨发育不全(CCD)患者RUNX2基因突变的研究  

Novel mutation of RUNX2 gene in a Chinese patient with cleidocranial dysplasia

作　　者：付东杰[1] 佘文婷 李俊[1] 卢怡 彭友俭[1] FU Dong-jie;SHE Wen-ting;LI Jun;LU YI;PENG You-jian(Department of Stomatology,Renmin Hospital of Wuhan University,Hubei Wuhan 430060,China)

机构地区：[1]武汉大学人民医院口腔科修复科,湖北武汉430060

出　　处：《临床口腔医学杂志》2018年第10期582-585,共4页Journal of Clinical Stomatology

基　　金：武汉市科技计划项目(2014062801011270)

摘　　要：目的:对确诊为颅骨锁骨发育不全(cleidocranial dysplasia,CCD)的先证者RUNX2基因测序,了解其序列特征,认识CCD分子生物学水平成因,扩充RUNX2基因序列大数据。方法:通过临床症状和X线检查,确诊了1例CCD先证者,抽取该先证者及其家庭成员的外周血进行基因分析。发现该先证者RUNX2基因转录过程中新的突变点,并针对该突变点,采用PCR方法进行基因扩增后,进行基因突变分析。结果:从这例先证者的基因中发现了1个新的突变点——7号外显子上有1种在正常家庭成员中的基因序列中并不存在的新的错义突变(c 895T> C,Y299H)。此突变将导致密码子895 (p Tyr 299 His)相对应的氨基酸发生变化,即从1个翻译成色氨酸的密码子(TAT)变成了1个翻译成组氨酸的密码子(CAT)。结论:首次在1例中国CCD患者中发现7号外显子新的错义突变位点(c 895T> C),补充了CCD疾病相关基因RUNX2变异库。Objective： To analyze the sequence of RUNX2 gene in a Chinese patient with clavicle dysplasia（ CCD）.Methods： A Chinese CCD patient was diagnosised through clinical symptoms and X-Ray examination,the peripheral blood of the patient and his family members was extracted for genetic analysis. The mutation was analyzed by PCR method after gene amplification. Results： The proband was 20 year old girl that shown typical CCD clinical characteristics,such as short higher,introcession on the forehead,protrusion of chin and supernumary teeth. The RUNX2 gene was sequenced and a novel missense mutation（ c 895 T〉 C,Y299 H） at exon 7 was discovered,while the normal families numbers did not carry the same mutation. This mutation will result in an amino acid change at codon 895（ p Tyr 299 His）,which is from a tryptophan codon（ TAT） to a histidine codon（ CAT）. Conclusion： This is a novel mutation of RUNX gene causes CCD at exon 7 which has never been reported in China.

关 键 词：颅骨锁骨发育不全(CCD) RUNX2基因 突变 

分 类 号：R681[医药卫生—骨科学]