Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia / 中华口腔医学杂志
Chinese Journal of Stomatology
;
(12): 490-493, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-293575
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutation in transcription factor paired box gene PAX9 in a mongolian family with non-syndromic oligodontia.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSIONS</b>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.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
DNA
/
Reação em Cadeia da Polimerase
/
Éxons
/
Análise de Sequência de DNA
/
Mutação Puntual
/
Técnicas de Amplificação de Ácido Nucleico
/
Povo Asiático
/
Etnologia
/
Fator de Transcrição PAX9
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Stomatology
Ano de publicação:
2013
Tipo de documento:
Artigo
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