[Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia].

Abstract

OBJECTIVE:

To investigate the mutation in transcription factor paired box gene PAX9 in a mongolian family with non-syndromic oligodontia.

METHODS:

Peripheral blood was collected from 17 core family members (9 unaffected, 8 affected) in this Mongolian family with non-syndromic oligodontia. Mutation in exons of PAX9 gene was identified by PCR amplification and DNA sequencing.

RESULTS:

A point mutation c.87G > C at position 87 in exon 4 of PAX9 was identified from 8 affected members in the family, which were G/C heterozygous.While the 9 healthy members in the family were homozygous for C which was consistent with normal reference sequence in the GenBank(accession number: NC_000014).

CONCLUSIONS:

The mutation of c.87G > C (p. Ala240Pro) in exon 4 of PAX9 was likely to cause the non-syndromic oligodontia in this Mongolian family.

• Authors: Yu-jie Chen, Yang-jian Liu, Hai-hua Bai, Ya-latu Su, Mei-ling Feng, Qi-zhu Wu
• Journal: Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology (Zhonghua Kou Qiang Yi Xue Za Zhi) Vol. 48 Issue 8 Pg. 490-3 (Aug 2013) ISSN: 1002-0098 [Print] China
• PMID: 24238416 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• PAX9 Transcription Factor
• PAX9 protein, human
• DNA

Topics

• Adolescent
• Anodontia (ethnology, genetics)
• Asian People (genetics)
• DNA (genetics)
• Exons
• Female
• Heterozygote
• Humans
• Male
• Nucleic Acid Amplification Techniques
• PAX9 Transcription Factor (genetics)
• Pedigree
• Point Mutation
• Polymerase Chain Reaction
• Sequence Analysis, DNA