【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。更多还原

【Abstract】 AIM: To investigate the potentially mutational locus of PAX9,MSX1 and AXIN2 genes in Chinese patients with non-syndromic oligodontia.METHODS: Genomic DNA was isolated from blood samples of the patients 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 members,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.更多还原