Department of Dentistry, University of Rome Tor Vergata, Rome, Italy.
Eur J Paediatr Dent. 2011 Dec;12(4):245-8.
Tooth agenesis is characterised by the congenital absence of one or more teeth. The Pax9 gene has been associated with nonsyndromic forms.
To investigate the molecular mechanisms, we evaluated specific haplotypes frequency in exon 3 of the Pax9 gene in 26 patients and 21 controls, using an Italian population.
Presence of His239His and the Ala240Pro were confirmed in exon 3 of the Pax9 gene. A frequency of 20.2€ of the T allele at position 717 and a C frequency of 33€ of Ala240Pro polymorphism, that reached 40.5€ in the control group, were observed. The 39 C/C-240 C/C or G/Chaplotype which we defined Pax9hapl a had a proportion of 61.9€ in control individuals. The frequency of Pax9hapl a tested in the patients was different from controls, being 81.3€ in normalcy and 18.8€ in oligodontia (p<0.05).
Our observations suggest that Pax9hapl a may have a protective effect against sporadic oligodontia.
牙缺失是指先天性缺少一颗或多颗牙齿。Pax9 基因与非综合征型有关。
为了探究分子机制，我们使用意大利人群，评估了 26 名患者和 21 名对照者的 Pax9 基因外显子 3 中特定单倍型的频率。
在 Pax9 基因的外显子 3 中，证实了 His239His 和 Ala240Pro 的存在。在 717 位的 T 等位基因的频率为 20.2€，Ala240Pro 多态性的 C 频率为 33€，在对照组中达到 40.5€。我们定义的 Pax9hapl a 中 39 C/C-240 C/C 或 G/Chaplotype 的比例在对照组中为 61.9€。在患者中测试的 Pax9hapl a 的频率与对照组不同，在正常组中为 81.3€，在少牙症组中为 18.8€（p<0.05）。
我们的观察结果表明，Pax9hapl a 可能对散发性少牙症具有保护作用。
