Mutation analysis of methyl CpG-binding protein 2 gene(exon 3) in Hirschsprung disease and anorectal malformations.
- Author:
Mei WU
1
;
Hong GAO
;
Jie MI
;
Ying HUANG
;
Zhi-bo ZHANG
;
Wei-lin WANG
Author Information
- Publication Type:Journal Article
- MeSH: Anorectal Malformations; Anus, Imperforate; genetics; Case-Control Studies; Child, Preschool; Exons; Female; Hirschsprung Disease; genetics; Humans; Male; Methyl-CpG-Binding Protein 2; genetics; Mutation; Phenotype
- From: Chinese Journal of Gastrointestinal Surgery 2011;14(10):764-767
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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).
METHODSPCR and DNA sequencing were used to detect the mutation of MeCP2-E3 in 120 healthy controls, 120 HSCR, and 50 ARMs.
RESULTSOn 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.
CONCLUSIONSMutation 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.
