在一个土耳其人群中，IRF6基因座多态性与孤立性牙齿发育不全之间存在连锁不平衡的证据。

Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population.

作者信息

Vieira Alexandre R, Seymen Figen, Patir Asli, Menezes Renato

机构信息

Department of Oral Biology and Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsbergh, PA 15261, USA.

出版信息

Arch Oral Biol. 2008 Aug;53(8):780-4. doi: 10.1016/j.archoralbio.2008.03.006. Epub 2008 May 1.

DOI:10.1016/j.archoralbio.2008.03.006

PMID:18452891

Abstract

Recently, the IRF6 contribution that was reported for Van der Woude syndrome and non-syndromic oral clefts was extended to isolated tooth agenesis. Here we report the first study that tries to replicate this finding and we provide further evidence that IRF6 contributes to isolated tooth agenesis. Fifty-two sporadic tooth agenesis cases and their parents were studied. DNA samples were obtained from whole blood or saliva samples. Genotyping was performed by TaqMan assays. Linkage disequilibrium analysis and transmission distortion of the marker alleles were performed. A haplotype involving the most 5'IRF6 markers was associated with sporadic tooth agenesis (p=0.006). An association could still be seen when only cases with at least one missing incisor (p=0.01) and cases with at least one missing premolar (p=0.004) were included in the analysis.

摘要

最近，据报道，在范德伍德综合征和非综合征性口腔颌面部裂隙中发现的IRF6基因的作用，被扩展到了孤立性牙齿发育不全。在此，我们报告了第一项试图重复这一发现的研究，并提供了进一步的证据，证明IRF6基因与孤立性牙齿发育不全有关。我们研究了52例散发性牙齿发育不全病例及其父母。从全血或唾液样本中获取DNA样本。通过TaqMan分析法进行基因分型。进行了连锁不平衡分析和标记等位基因的传递畸变分析。一个涉及最5'端IRF6标记的单倍型与散发性牙齿发育不全相关（p=0.006）。当仅将至少一颗切牙缺失的病例（p=0.01）和至少一颗前磨牙缺失的病例（p=0.004）纳入分析时，仍可观察到关联。