[Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia].
Copyright policy )[Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia].
To investigate the mutation in transcription factor paired box gene PAX9 in a mongolian family with non-syndromic oligodontia.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.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).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.
- Inner Mongolia University China (People's Republic of)
- Inner Mongolia University for Nationalities China (People's Republic of)
Male, Heterozygote, Adolescent, DNA, Exons, Sequence Analysis, DNA, Polymerase Chain Reaction, Pedigree, Asian People, Humans, Point Mutation, Female, PAX9 Transcription Factor, Nucleic Acid Amplification Techniques, Anodontia
Male, Heterozygote, Adolescent, DNA, Exons, Sequence Analysis, DNA, Polymerase Chain Reaction, Pedigree, Asian People, Humans, Point Mutation, Female, PAX9 Transcription Factor, Nucleic Acid Amplification Techniques, Anodontia
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