Mutation analysis of methyl CpG-binding protein 2 gene(exon 3) in Hirschsprung disease and anorectal malformations / 中华胃肠外科杂志
Chinese Journal of Gastrointestinal Surgery
;
(12): 764-767, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-321240
ABSTRACT
<p><b>OBJECTIVE</b>To explore the relationship between exon 3 mutation in the methyl CpG-binding protein 2 (MeCP2-E3) gene and Hirschsprung disease (HSCR) and anorectal malformations (ARMs).</p><p><b>METHODS</b>PCR and DNA sequencing were used to detect the mutation of MeCP2-E3 in 120 healthy controls, 120 HSCR, and 50 ARMs.</p><p><b>RESULTS</b>On sequencing, 45(37.5%) children with HSCR had basic replacement in MeCP2-E3, 12(10.0%) of them were homozygous mutation. Fourteen(28.0%) children with ARMs had basic replacement in MeCP2-E3, 4(8%) of them were homozygous mutation. There were no mutation in the control group.</p><p><b>CONCLUSIONS</b>Mutation of MeCP2-E3 is present in the peripheral blood of children with HSCR or ARMs, which may contribute to the development of Hirschsprung disease or anorectal malformations.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anus Imperfurado
/
Fenótipo
/
Estudos de Casos e Controles
/
Éxons
/
Proteína 2 de Ligação a Metil-CpG
/
Malformações Anorretais
/
Genética
/
Doença de Hirschsprung
/
Mutação
Tipo de estudo:
Estudo observacional
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Gastrointestinal Surgery
Ano de publicação:
2011
Tipo de documento:
Artigo
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