Detection Of Mutations Of PAX9 And MSX1 Gene In Xinjiang Uyghur Patients With Non-syndrome Tooth Agenesis

Objective:To analysis genetic features and detect the PAX9, MSX1 gene mutation in Xinjiang Uyghur patients with non-syndrome tooth agenesis and explore the possible pathogenesis of non-syndrome tooth agenesis. Methods:Collect 2 Uyghur pedigrees with non-syndrome tooth agenesis,6 patients,2 phenotype normal, draw pedigree figure, analyzing genetic characteristics. Collect 6 send out patients,122 healthy controls. DNA was extracted from buccal swab samples from all participants. All exons of the PAX9 gene and MSX1 gene were amplified with polymerase chain reaction technique and then directly sequenced. Results:1) The 2 Uyghur pedigrees were diagnosed as autosomal dominant.2) Two SNPs were found in exon 3 (85,86 site), PAX9 gene,85 site of exon3 C→86 site of exon3 G→C and two SNPs were found in exonl (353site), exon2 (448site), MSX1 gene,353 site of exonl C→G,448 site of exon2 C→T. Conclusions: The results suggest that the two nucleotide changes in exon 3 (85,86 site), PAX9 gene and one nucleotide change in exonl (353site), MSX1 gene might be responsible for oligodontia in Xinjiang Uyghur.