Frazier-Bowers Sylvia A, Scott Meredith R, Cavender Adriana, Mensah John, D'Souza Rena N
Department of Orthodontics, University of Texas Health Science Center-Dental Branch, Houston, Texas 77030, USA.
Connect Tissue Res. 2002;43(2-3):296-300. doi: 10.1080/03008200290000961.
Oligodontia, the congenital absence of six or more permanent teeth, is a common developmental anomaly of human dentition whose genetic basis is poorly understood. We recently reported a nonsyndromic form of oligodontia involving mostly all permanent molars in a large kindred, caused by a frameshift mutation in exon 2 of the human PAX9 gene [3]. To better understand the genotype/phenotype correlation in non-syndromic familial oligodontia, we identified additional families with a similar pattern of molar oligodontia. We hypothesize that molar oligodontia is due to allelic heterogeneity involving different mutations in PAX9. To test this hypothesis, we performed pedigree analysis followed by mutational analysis. Pedigree analysis revealed that the oligodontia trait is inherited in an autosomal dominant fashion. Mutational analysis of PAX9 thus far excludes the presence of the previously identified frameshift mutation.
少牙症是指先天性缺失6颗或更多恒牙，是人类牙列常见的发育异常，其遗传基础尚不清楚。我们最近报道了一个大型家系中一种非综合征型少牙症，主要累及所有恒牙磨牙，由人类PAX9基因第2外显子的移码突变引起[3]。为了更好地理解非综合征型家族性少牙症的基因型/表型相关性，我们鉴定了其他具有类似磨牙少牙症模式的家系。我们推测磨牙少牙症是由于PAX9中涉及不同突变的等位基因异质性所致。为了验证这一假设，我们先进行了系谱分析，然后进行突变分析。系谱分析显示，少牙症性状以常染色体显性方式遗传。迄今为止，PAX9的突变分析排除了先前鉴定的移码突变的存在。
