Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia.
- Author:
Yu-jie CHEN
1
;
Yang-jian LIU
;
Hai-hua BAI
;
Ya-latu SU
;
Mei-ling FENG
;
Qi-zhu WU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Anodontia; ethnology; genetics; Asian Continental Ancestry Group; 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
- From: Chinese Journal of Stomatology 2013;48(8):490-493
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the mutation in transcription factor paired box gene PAX9 in a mongolian family with non-syndromic oligodontia.
METHODSPeripheral 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.
RESULTSA 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).
CONCLUSIONSThe mutation of c.87G > C (p. Ala240Pro) in exon 4 of PAX9 was likely to cause the non-syndromic oligodontia in this Mongolian family.
