Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 82-83, 2006.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-263846
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify mutations of interferon regulatory factor 6 (IRF6) gene in Van der Woude syndrome (VWS) patients in China.</p><p><b>METHODS</b>Three Chinese VWS families were screened to IRF6 gene mutation via PCR and sequence techniques. After amplification of exons 1-8 and their flanking splice junctions and part of exon 9 of the IRF6 gene by polymerase chain reaction, mutations were detected by direct sequencing.</p><p><b>RESULTS</b>Three novel mutations, one in each family, were identified in all the affected members in the three families. There were one missense mutation 1214 (T-->C) in exon 9, two nonsense mutations 981 (T-->A) in exon 7 and 1234 (C-->T) in exon 9. All affected members of the three families were heterozygous for their respective mutation.</p><p><b>CONCLUSION</b>Mutations in IRF6 gene were found in all VWS patients. This observation supports the hypothesis that IRF6 is the gene responsible for VWS across different populations.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fenda Labial
/
Predisposição Genética para Doença
/
Povo Asiático
/
Fatores Reguladores de Interferon
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2006
Tipo de documento:
Artigo