Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology, Beijing, China.
Int J Paediatr Dent. 2011 Jul;21(4):271-7. doi: 10.1111/j.1365-263X.2011.01119.x. Epub 2011 Feb 23.
To search for variants of PAX6 gene in patients with nonsyndromic supernumerary teeth in the maxillary incisor area (NSST) and compare genotypes and allele frequencies of the detected polymorphisms between the patients and controls.
Twenty children with NSST and 31 controls were included. Genomic DNA was extracted from buccal epithelial cells of each individual. Sequencing analysis of all exons and exon/intron boundaries of PAX6 gene were performed in patients. Genotypes and allele frequencies of the single nucleotide polymorphisms detected in patients were compared between the two groups using chi-square tests.
Of the 20 patients examined, six showed heterozygous for rs667773 and rs3026393 simultaneously. Among them, four possessed two supernumerary teeth and the other two possessed one. Another six patients showed heterozygous for rs3026393, five of which possessed only one supernumerary tooth and the other one possessed two. Of another six patients with homozygous rs3026393, three possessed one supernumerary tooth and the other three possessed two. The distributions of genotypes and alleles frequencies of single nucleotide polymorphisms rs667773 and rs3026393 showed no significant difference between the two groups.
The present study did not find evidence of PAX6 polymorphisms being associated with supernumerary teeth in the population studied.
在患有上颌中切牙额外牙（NSST）的非综合征性患者中寻找 PAX6 基因突变，并比较患者和对照组中检测到的多态性的基因型和等位基因频率。
纳入 20 名 NSST 患儿和 31 名对照。从每位个体的颊上皮细胞中提取基因组 DNA。对 PAX6 基因的所有外显子和外显子/内含子边界进行测序分析。采用卡方检验比较两组患者中检测到的单核苷酸多态性的基因型和等位基因频率。
在 20 名受检患者中，有 6 名同时表现为 rs667773 和 rs3026393 的杂合子。其中，4 名患者有 2 颗额外牙，另外 2 名患者有 1 颗额外牙。另外 6 名患者表现为 rs3026393 的杂合子，其中 5 名患者仅有 1 颗额外牙，另 1 名患者有 2 颗额外牙。另外 6 名 rs3026393 纯合子患者中，有 3 名患者有 1 颗额外牙，另外 3 名患者有 2 颗额外牙。单核苷酸多态性 rs667773 和 rs3026393 的基因型和等位基因频率分布在两组间无显著差异。
本研究未发现 PAX6 多态性与研究人群中额外牙相关的证据。
