| Autor: |
Tao Zhang, Xiao Bing Tang, Li Li Wang, Yu Zuo Bai, Guang Rong Qiu, Zheng Wei Yuan, Wei Lin Wang |
| Jazyk: |
angličtina |
| Rok vydání: |
2013 |
| Předmět: |
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| Zdroj: |
International Journal of Medical Sciences, Vol 10, Iss 2, Pp 191-197 (2013) |
| Druh dokumentu: |
article |
| ISSN: |
1449-1907 |
| 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: |
Directory of Open Access Journals |
| Externí odkaz: |
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