Department of Pediatric Surgery, Shengjing Hospital, China Medical University, Shenyang, P.R. China.
Int J Med Sci. 2013;10(2):191-7. doi: 10.7150/ijms.4929. Epub 2013 Jan 9.
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.
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.
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.
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.
肛门直肠畸形（ARMs）代表了多种涉及肛门直肠异常终止的先天性疾病。本研究旨在揭示 CDX1 与人类 ARMs 表型之间的关系。
本研究纳入了 108 例中国患者和 120 例中国对照。我们通过 PCR、qRT-PCR、western blot 和免疫荧光分析了两者之间的关系。
在 ARMs 患者中发现了 CDX1 基因的四个杂合突变（3.7%，4/108），在对照组中未发现。与对照组肛门直肠相比，ARMs 中的 CDX1 蛋白表达显著降低。与匹配的正常组相比，所有在 ARMs 组中分析的样本均显示 CDX1 mRNA 表达下调，统计学上差异显著。
这些发现代表了 CDX1 突变与 CDX1 基因型之间的关系。此外，提示 CDX1 的下调可能与 ARMs 的发生有关。
