1例非综合征型先天缺牙家系的基因筛查  

Genetic Screening in a Chinese Family with Oligodontia

作　　者：杨艳[1] 张义磊[2] 

机构地区：[1]武汉大学中南医院口腔科,湖北武汉430071 [2]华中科技大学生命科学学院,湖北武汉430074

出　　处：《武汉大学学报（医学版）》2011年第3期343-348,共6页Medical Journal of Wuhan University

基　　金：湖北省卫生厅科研指导性项目(编号:JX4C39)

摘　　要：目的:探讨非综合征型先天缺牙患者的基因突变位点,为此类疾病的诊断提供基因学参考。方法:通过临床先证者寻找非综合征型先天缺牙家系,根据各成员的临床表型和发病特点,绘制系谱图。在患者及其家属知情同意的情况下,抽取家系成员外周血、提取基因组DNA,运用候选基因筛查法检测与缺牙密切相关的PAX 9、AXIN 2、MSX 1基因片段。结果:此家系的单纯性先天缺牙临床表型符合常染色体显性遗传规律,患病者出现不同数量的缺牙并伴发锥形牙。对PAX 9基因测序后,在Paired Domain的上游109位碱基(1号内含子内)发现一个碱基差异位点G/T。对MSX 1基因片段测序后未发现突变。在AXIN 2的7号外显子内有同义突变的多态位点C/T。结论:PAX 9和AXIN 2基因片段中某些编码基因的改变与该家系缺牙存在相关性。Objective： To investigate the mutational sites in chromosome of patients with oligodontia of non-syndrome and to provide a molecular basis for studying the disease.Methods： A family with congenital non-syndromic oligodontia was found,and the pedigree was drawn on the basis of the phenotype and disease characteristics of the family.The susceptibility genes PAX 9,AXIN 2,and MSX 1 were studied by polymerase chain reaction in order to find mutational sites.Results： The non-syndromic oligodontia in the family was inherited in an autosome-dominant manner.The patients lacked teeth in different numbers and had the cone-shape tooth.One mutation was found in a patient in intron 1 of PAX 9 gene as a missense mutation of G/T.Mutation was not found in MSX 1 gene.Synonymous mutation of polymorphism site C/T was found in exon 7 of AXIN 2 gene.Conclusion： The oligodontia in this family was caused by the mutations in PAX 9 and AXIN 2 genes.

关 键 词：非综合征型先天缺牙 PAX9基因 MSX1基因 AXIN2基因 

分 类 号：R781.2[医药卫生—口腔医学]