Related Experiment Video
Updated: Jun 4, 2026

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
PAX6 polymorphisms in 20 Chinese children with supernumerary teeth in the maxillary incisor area
Hai-Hua Lei1, He Liu, Li-Hong Ge
1Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology, Beijing, China.
Aim:
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.
Design:
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.
Results:
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.
Conclusions:
The present study did not find evidence of PAX6 polymorphisms being associated with supernumerary teeth in the population studied.
Related Concept Videos
Pleiotropy
Single Nucleotide Polymorphisms-SNPs
Teeth
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin and...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Incomplete Dominance
