[Mutation analysis of methyl CpG-binding protein 2 gene(exon 3) in Hirschsprung disease and anorectal malformations].
OBJECTIVE
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).


METHODS
PCR and DNA sequencing were used to detect the mutation of MeCP2-E3 in 120 healthy controls, 120 HSCR, and 50 ARMs.


RESULTS
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.


CONCLUSIONS
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.
China Medical University, Shenyang, China.
Mei
M
Wu
Hong
H
Gao
Jie
J
Mi
Ying
Y
Huang
Zhi-bo
ZB
Zhang
Wei-lin
WL
Wang
D000071056:Anorectal Malformations; D001006:Anus, Imperforate / Q000235:genetics*; D016022:Case-Control Studies; D002675:Child, Preschool; D005091:Exons; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2