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Objective To explore the relationship between ex-on 3 mutation in the methyl CpGbinding 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.
Objective To explore the relationship between ex-on 3 mutation in the methyl CpGbinding 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.