Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations
| Autor: | Guang Rong Qiu, Tao Zhang, Lili Wang, Wei Lin Wang, Zheng Wei Yuan, Yu Zuo Bai, Xiao Bing Tang |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Pathology medicine.medical_specialty Down-Regulation Physiology Rectum Biology Immunofluorescence medicine.disease_cause Anus Imperforate children Downregulation and upregulation Western blot Genotype medicine Humans Gene Homeodomain Proteins Mutation medicine.diagnostic_test Infant Newborn Infant General Medicine Phenotype Anorectal Malformations CDX1 medicine.anatomical_structure Female Research Paper |
| Zdroj: | International Journal of Medical Sciences |
| ISSN: | 1449-1907 |
| DOI: | 10.7150/ijms.4929 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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