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

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>