PAX9基因大片段外显子-5与一蒙古族先天缺失牙家系患者相关性研究  

Research on the Correlation Between PAX9 Gene Exon-5 and a Mongolian Family Pedigree with Oligodontia

作　　者：陈宇杰[1] 刘海萍[1] 张玉兰[2] 冯美玲[2] 吴柒柱[2] 

机构地区：[1]内蒙古民族大学生命科学学院,内蒙古通辽028000 [2]内蒙古民族大学附属医院,内蒙古通辽028000

出　　处：《内蒙古民族大学学报（自然科学版）》2011年第6期702-704,共3页Journal of Inner Mongolia Minzu University：Natural Sciences

摘　　要：目的:探讨转录调控因子成对盒基因PAX9(Paired box 9)大片段外显子-5与一蒙古族先天缺失牙家系患者发病的相关性.方法:分别使用普通PCR和降落PCR技术扩增PAX9大片段外显子-5,对比扩增结果,并将扩增得到的产物进行测序.结果:降落PCR技术能够扩增出与预期大小完全一致的目的片段,且扩增的特异性较普通PCR高.测序结果表明该外显子-5与GenBank中登录的正常人序列相同,未发现突变位点.结论:此患者先天缺失牙并非由外显子-5突变造成.降落PCR技术能有效地降低或避免非特异性扩增,快速得到目的片段.Objective： To investigate the correlation between transcription factor paired box gene PAX9（Paired box 9） large exon-5 and a Mongolian family pedigree with oligodontia.Methods： We used ordinary PCR and Touchdown（TD） PCR to amplify PAX9 large exon-5 and compared their amplification results,and the PCR product was sequenced.Results： TD-PCR can amplify the identical size of target fragment,and its amplification specificity was more than ordinary PCR.The sequencing results show that PAX9 gene exon-5 was the same between the patient and normal human being logged in GenBank.There is no mutation in PAX9 gene exon-5.Conclusion： The result indicates that the patients with oligodontia is not caused by exon-5 mutations.TD-PCR technology can effectively reduce or avoid non-specific amplification and obtain the target fragment quickly.

关 键 词：先天缺失牙 蒙古族 PAX9基因 

分 类 号：R781[医药卫生—口腔医学]