23 June 2018
Int J Med Sci 2013; 10(2):191-197. doi:10.7150/ijms.4929
Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations
1. Department of Pediatric Surgery, Shengjing Hospital, China Medical University.
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.
Keywords: Anorectal malformations, CDX1, mutation, children
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How to cite this article:
Zhang T, Tang XB, Wang LL, Bai YZ, Qiu GR, Yuan ZW, Wang WL. Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations. Int J Med Sci 2013; 10(2):191-197. doi:10.7150/ijms.4929. Available from http://www.medsci.org/v10p0191.htm