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

VernacularTitle:蒙古族非综合征型先天缺失牙家系PAX9基因突变的检测
Author: Yu-Jie CHEN ¹ ; Yang-Jian LIU ; Hai-Hua BAI ; Ya-Latu SU ; Mei-Ling FENG ; Qi-Zhu WU
Author Information

1. 内蒙古民族大学生命科学学院
Keywords: Tooth loss; Mutation; PAX9 transcription factor; Mongolian population
From: Chinese Journal of Stomatology 2013;48(8):490-493
CountryChina
Language:Chinese
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.