Detection of mutations of PAX9 gene in two Uyghur families with nonsyndromic hypodontia/oligodontia in Xinjiang

Objective To detect the PAX9 gene mutation in Xinjiang Uyghur patients with nonsyndromic hypodontia/ oligodontia and explore the possible pathogenesis of congenital oligodontia.Methods DNA was extracted from buccal swab samples from two Uyghur families with nonsyndromic hypodontia/ oligodontia.All exons of the PAX9 gene were amplified with polymerase chain reaction technique and then directly sequenced.Results Two nucleotide change were found in exon 3(85,86 site),PAX9 gene.Conclusions The results suggest that the two nucleotide change in exon 3(85,86 site),PAX9 gene be responsible for oligodontia in Xinjiang Uyghur.