3例非综合征多数牙先天缺失家系的基因筛查  

Genetic screening in three chinese families with oligodontia

作　　者：谭灵[1] 郑林华[2] 葛鑫[1] 邬礼政[1] 刘芬[1] 袁林天[1] 王小竞[1] 

机构地区：[1]第四军医大学口腔医学院,陕西西安710032 [2]第四军医大学西京医院,陕西西安710032

出　　处：《牙体牙髓牙周病学杂志》2013年第4期235-239,224,共6页Chinese Journal of Conservative Dentistry

基　　金：陕西省自然科学基金项目(SJ08C219)

摘　　要：目的:探讨非综合征型多数牙先天缺失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:提取患者及其家庭成员静脉全血基因组DNA,用PCR方法扩增PAX9、MSX1及AXIN2三个基因全部外显子后,进行纯化测序,结合系谱图进行分析。结果:3个家系的临床表现符合常染色体显性遗传规律,测序结果均显示存在两个与先天缺牙密切相关的错译或同义突变SNP位点(PAX9 G718C,AXIN2C2062T);其中一个家系PAX9基因中发现一已知与多数牙缺失相关的错译突变位点C139T(R47W)。结论:多数牙先天缺失可能与PAX9、AXIN2基因片段中某些核苷酸的改变,包括某些高危SNP位点相关。AIM： To investigate the potentially mutational locus of PAX9, MSX1 and AXIN2 genes in Chi- nese patients with non-syndromic oligodontia. METHODS ： Genomic DNA was isolated from blood samples of the pa- tients and their familys. PCR was performed to amplify each exon of PAX9, MSX1 and AXIN2 genes. Gel-purified PCR fragments were sequenced to identify potential mutations. RESULTS： The non-syndrome oligodontia in those families were inherited in an autosome-dominant manner. Some crucial polymorphic sites were found in affected mem- bers, but not found in unaffected individuals of these families. Direct DNA sequencing of each exon of PAX9, MSX1 and AXIN2 revealed three missense mutations including rs4904210 （G718C, A240P ） in exon3 of PAX9 and rs35415678（ C2062T, L688L）in exon7 of AXIN2 in the affected individuals from these families. One known missense mutation C139T （R47W） in exon 2 of PAX9 was found in one of the 3 families. CONCLUSION： These data suggest a highly positive relationship between tooth agenesis and the mutations of PAX9 and AXIN2 genes.

关 键 词：多数牙先天缺失 PAX9 MSX1 AXIN2 单核苷酸多态性 

分 类 号：R780.2[医药卫生—口腔医学]