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.
Article
em Zh
| WPRIM
| ID: wpr-321240
Biblioteca responsável:
WPRO
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>
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Base de dados:
WPRIM
Assunto principal:
Anus Imperfurado
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Fenótipo
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Estudos de Casos e Controles
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Éxons
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Proteína 2 de Ligação a Metil-CpG
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Malformações Anorretais
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Genética
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Doença de Hirschsprung
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Mutação
Tipo de estudo:
Observational_studies
Limite:
Child, preschool
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Gastrointestinal Surgery
Ano de publicação:
2011
Tipo de documento:
Article