Detection of mutations of Axin2 with nonsyndromic hypodontia in three Xinjiang Uyghur families

Objective To explore the mutational sites of AXIN2 in Xinjiang Uygur patients with oligodontia of non-syndrome and to provide a molecular basis and genomics reference for the diseases in the population of Uygur.Methods Through clinical proband we found three Uygur non-syndromic hypodontia families,and DNA was extracted from buccal swab samples from family members,exons of the AXIN2 gene was amplified with polymerase chain reaction technique and then directly sequenced.Results 3 non-syndromic oligodontia Uighur families were inherited in autosomal dominant manner,and in these families patients suffered from missing teeth or cone-shaped teeth.Sequence results of Axin2 showed 5 SNPs.ConclusionThe results suggest that the 5 nucleotide change in exon2 and exon6 and exon11 in AXIN2 gene is responsible for oligodontia in Xinjiang Uyghur.