Mutations and down-regulation of CDX1 in children with anorectal malformations.
Int J Med Sci
; 10(2): 191-7, 2013.
Article
em En
| MEDLINE
| ID: mdl-23329892
ABSTRACT
BACKGROUND:
Anorectal malformations (ARMs) represent a variety of congenital disorders that involve abnormal termination of the anorectum. This study was to reveal relation between CDX1 and human ARMs phenotypes.METHODS:
108 Chinese patients and 120 Chinese controls were included in this study. We analyzed the relation between two by PCR, qRT-PCR, western blot and immunofluorescence.RESULTS:
Four heterozygous mutations in CDX1 gene were identified in ARMs patients (3.7%, 4/108), no found in controls. CDX1 protein expression was significantly decreased in the ARMs compared with the control anorectum. All samples analyzed in ARMs group exhibited down-regulated CDX1 mRNA expression in comparison to matched normal group, demonstrated significant differences statistically.CONCLUSION:
The findings represented the relation between CDX1 mutations and CDX1 genotype. Furthermore, it was suggested that the downregulation of CDX1 might be related to the development of ARMs.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anus Imperfurado
/
Proteínas de Homeodomínio
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article