[Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia].
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.
Biology Laboratory of Life Sciences, College of Inner Mongolia University for The Nationalities, Tongliao Inner Mongolia 028000, China.
Yu-jie
YJ
Chen
Yang-jian
YJ
Liu
Hai-hua
HH
Bai
Ya-latu
YL
Su
Mei-ling
ML
Feng
Qi-zhu
QZ
Wu
D000293:Adolescent; D000848:Anodontia / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D021141:Nucleic Acid Amplification Techniques; D051764:PAX9 Transcription Factor / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; D004247:DNA