Vitria Evy Eida, Tofani Iwan, Kusdhany Lindawati, Bachtiar Endang Winiati
Departement of Oral & Maxillofacial Surgery, Faculty of Dentistry,, Universitas Indonesia, Jakarta, 10430, Indonesia.
Departement of Prosthodontic, Faculty of Dentistry, Universitas Indonesia, Jakarta, 10430, Indonesia.
F1000Res. 2019 Mar 5;8:254. doi: 10.12688/f1000research.17147.1. eCollection 2019.
: Paired-box gene 9 ( ) mutation is potentially associated with impaction in some patient populations. Here, we analyzed the relationship between polymorphism and the occurrence of maxillary canine impaction. : Patients with and without maxillary canine impaction were selected based on specific inclusion criteria, and samples of genomic DNA were obtained from a buccal mucosa swab. DNA was amplified by polymerase chain reaction and sequenced for further bioinformatics analysis to identify single nucleotide polymorphism (SNP) genotypes. Genotype and allele counting was performed in both case and control groups prior to conducting statistical analysis. : Four SNPs were identified in patients with maxillary canine impaction, with relative confidence determined based on chromatogram-peak assessment. All SNPs were located in exon 3 of and in the region sequenced by the primer pair -197Fex3 and +28Rex3. Three of the SNPs (rs375436662, rs12881240, and rs4904210) were reported previously and are annotated in NCBI (dbSNP version 150), whereas another SNP mapped to chromosome 14 has not been reported. Patients with a CC genotype at SNP 3 [odds ratio (OR): 2.61 vs. TT; 1.28 vs. CT] and a CC genotype at SNP 4 [OR: 0.71 vs. GG; 0.79 vs. CG] were more likely to have maxillary canine impaction. : These results demonstrated that the presence of SNPs 3 and 4 is associated with increased likelihood of suffering from maxillary canine impaction.
配对盒基因9（ ）突变在某些患者群体中可能与阻生有关。在此，我们分析了 多态性与上颌尖牙阻生发生之间的关系。
选择符合特定纳入标准的有和无上颌尖牙阻生的患者，通过颊黏膜拭子获取基因组DNA样本。通过聚合酶链反应扩增DNA并进行测序以进行进一步的生物信息学分析，以鉴定单核苷酸多态性（SNP）基因型。在进行统计分析之前，在病例组和对照组中进行基因型和等位基因计数。
在上颌尖牙阻生患者中鉴定出四个SNP，根据色谱峰评估确定相对置信度。所有SNP均位于 的外显子3中以及由引物对-197Fex3和+28Rex3测序的区域中。其中三个SNP（rs375436662、rs12881240和rs4904210）先前已有报道并在NCBI（dbSNP版本150）中注释，而另一个定位于14号染色体的SNP尚未见报道。SNP 3处CC基因型的患者[比值比（OR）：与TT相比为2.61；与CT相比为1.28]和SNP 4处CC基因型的患者[OR：与GG相比为0.71；与CG相比为0.79]更有可能发生上颌尖牙阻生。
这些结果表明，SNP 3和4的存在与上颌尖牙阻生的患病可能性增加有关。
