PAX6 polymorphisms in 20 Chinese children with supernumerary teeth in the maxillary incisor area. 2011

Hai-Hua Lei, and He Liu, and Li-Hong Ge
Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology, Beijing, China.

OBJECTIVE 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. METHODS 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.

UI MeSH Term Description Entries
D007180 Incisor Any of the eight frontal teeth (four maxillary and four mandibular) having a sharp incisal edge for cutting food and a single root, which occurs in man both as a deciduous and a permanent tooth. (Jablonski, Dictionary of Dentistry, 1992, p820) Incisors
D007438 Introns Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes. Intervening Sequences,Sequences, Intervening,Intervening Sequence,Intron,Sequence, Intervening
D008297 Male Males
D008437 Maxilla One of a pair of irregularly shaped bones that form the upper jaw. A maxillary bone provides tooth sockets for the superior teeth, forms part of the ORBIT, and contains the MAXILLARY SINUS. Maxillae,Maxillary Bone,Bone, Maxillary,Bones, Maxillary,Maxillary Bones,Maxillas
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D012097 Repressor Proteins Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release. Repressor Molecules,Transcriptional Silencing Factors,Proteins, Repressor,Silencing Factors, Transcriptional
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002681 China A country spanning from central Asia to the Pacific Ocean. Inner Mongolia,Manchuria,People's Republic of China,Sinkiang,Mainland China
D003596 Cytosine A pyrimidine base that is a fundamental unit of nucleic acids.

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