CAJ | 학술논문

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.
목적：탐토전록조공인자성대합기인PAX9（Paired box 9）대편단외현자-5여일몽고족선천결실아가계환자발병적상관성.방법：분별사용보통PCR화강락PCR기술확증PAX9대편단외현자-5,대비확증결과,병장확증득도적산물진행측서.결과：강락PCR기술능구확증출여예기대소완전일치적목적편단,차확증적특이성교보통PCR고.측서결과표명해외현자-5여GenBank중등록적정상인서렬상동,미발현돌변위점.결론：차환자선천결실아병비유외현자-5돌변조성.강락PCR기술능유효지강저혹피면비특이성확증,쾌속득도목적편단.
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.