Genetic features analysis and detection of mutations of MSX1 gene in Xinjiang Uyghur patients with nonsyndromic hypodontia/oligodontia

Objective To analyze genetic features and detect the MSX1 gene mutation in Xinjiang Uyghur patients with nonsyndromic hypodontia/ oligodontia,and explore the possible pathogenesis of congenital oligodontia.Methods Pedigree figures were constructed and DNA was extracted from buccal swab samples from two Uyghur families with nonsyndromic hypodontia/oligodontia.All exons of the MSX1 gene were amplified with polymerase chain reaction technique(PCR) and then directly sequenced.Results Two nucleotide change were found in exon1(353 site),exon2(448 site) of MSX1 gene.Conclusion The results suggest that the nucleotide change in exon1(353 site) of MSX1 gene might be responsible for oligodontia in Xinjiang Uyghur nationality.