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
in Zh
| WPRIM
| ID: wpr-321240
Responsible library:
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>
Full text:
1
Index:
WPRIM
Main subject:
Anus, Imperforate
/
Phenotype
/
Case-Control Studies
/
Exons
/
Methyl-CpG-Binding Protein 2
/
Anorectal Malformations
/
Genetics
/
Hirschsprung Disease
/
Mutation
Type of study:
Observational_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Gastrointestinal Surgery
Year:
2011
Type:
Article