MSX1, PAX9, and TGFA contribute to tooth agenesis in humans
MSX1, PAX9, and TGFA contribute to tooth agenesis in humans
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DOI：
10.1177/154405910408300913
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发表时间：
2004-09-01
影响因子：
7.6
通讯作者：
Murray, JC
中科院分区：
文献类型：
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作者：
Vieira, AR;Meira, R;Murray, JC
在这项研究中，我们试图确定不同种族人群中牙齿发育不全与 MSX1 和 PAX9 基因 DNA 序列变异之间的关联。由于唇裂/腭裂也与牙齿发育不全和 TGFA 基因相关，因此我们也将 TGFA 纳入分析中。从 116 名病例/父母三人组中获取脸颊拭子样本进行 DNA 分析。先证者至少有一颗发育性缺失的牙齿，不包括第三磨牙。通过单链构象多态性或动力学聚合酶链反应测定进行基因分型。进行了标记等位基因的传输失真和DNA序列分析。结果表明，牙齿发育不全与 MSX1 和 TGFA 基因标记相关。 MSX1 或 PAX9 编码区未发现突变。有统计学意义的数据表明 MSX1 与 PAX9 相互作用。这些发现表明 MSX1、PAX9 和 TGFA 在孤立性牙齿发育不全中发挥作用。
In this study, we sought to determine the association between tooth agenesis and DNA sequence variation in the genes MSX1 and PAX9 in an ethnically diverse human population. Since cleft lip/ palate is also associated with both tooth agenesis and the gene TGFA, we included TGFA in the analysis as well. Cheek swab samples were obtained for DNA analysis from 116 case/ parent trios. Probands had at least one developmentally missing tooth, excluding third molars. Genotyping was performed by single- strand conformational polymorphism or kinetic polymerase chain-reaction assays. Transmission distortion of the marker alleles and DNA sequence analysis was performed. Results showed that tooth agenesis is associated with markers of the genes MSX1 and TGFA. No mutations were found in MSX1 or PAX9 coding regions. There were statistically significant data suggesting that MSX1 interacts with PAX9. These findings suggest that MSX1, PAX9, and TGFA play a role in isolated dental agenesis.