广东牙病防治2011，Vol.19Issue(1)：6-10,5.
颅骨锁骨发育不良综合征患者RUNX2基因突变检测
Mutations in the RUNX2 Gene in Chinese Famities With Cleidocranfal Dysplasia
摘要
Abstract
Objective Cleidocranial dysplasia is an autosomal dominant inheritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2, and the mutation analyses of RUNX2 were done on four Chinese family with CCD. Methods The proband and her parents were investigated in the present study. Radiological examination regarding osseous malformations was carried out over the entire body. Genomic DNA was extracted fromwhole blood, and the RUNX2 gene was amplified by PCR from genomic DNA. DNA sequences were analyzed using BLASTN (BLAST nucleotide) program. Results Different mutations for each CCD case were detected. A novel c. 475 G ＞ C( p G159R)misseuse mutation was included, while such mutation were not found with their healthy parents. Although the other three mutations were reported in the literatures, R225W and R391X mutations were reported in Chinese cases with CCD for the first time. Conclnsion This study supplemented the data of RUNX2 gene mutation, and expanded the corresponding study field.关键词
颅骨锁骨发育不良综合征/RUNX2基因/突变Key words
Cleidocranial dysplasia/ RUNX2/ Mutation分类
医药卫生引用本文复制引用
梁国健,谢宝仪,轩东英..颅骨锁骨发育不良综合征患者RUNX2基因突变检测[J].广东牙病防治,2011,19(1):6-10,5.基金项目
广东省自然科学基金(9451026003003833) （9451026003003833）
