A novel mutation of MSX1 gene in a Chinese pedigree with oligodontia / 中华口腔医学杂志
Chinese Journal of Stomatology
;
(12): 157-159, 2008.
Artículo
en Chino
| WPRIM
| ID: wpr-235958
ABSTRACT
<p><b>OBJECTIVE</b>To detect the MSX1 gene mutation in a Chinese family with oligodontia.</p><p><b>METHODS</b>Blood samples were obtained from seven affected and seven unaffected individuals in the pedigree. All exons and flanking intronic boundaries of the MSX1 gene were amplified with polymerase chain reaction technique and then directly sequenced. The website of bioinformatics was used to predict the effect of the mutation on the function.</p><p><b>RESULTS</b>A splicing mutation (IVS1-2A > G) was found at position -2 near the 3' end of the IVS1 of MSX1, which made a change of the intron 1 splice acceptor site. None of the mutation was found in normal individuals of the family and in 100 unrelated healthy matched control individuals.</p><p><b>CONCLUSIONS</b>IVS1-2A > G was a novel splicing mutation identified in the MSX-1 gene and it might be responsible for nonsyndromic oligodontia in this family.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Anomalías Dentarias
/
Datos de Secuencia Molecular
/
Estudios de Casos y Controles
/
Pueblo Asiatico
/
Factor de Transcripción MSX1
/
Genética
/
Mutación
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Adolescente
/
Adulto
/
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Stomatology
Año:
2008
Tipo del documento:
Artículo
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