Mutations and down-regulation of CDX1 in children with anorectal malformations.
Mutations and down-regulation of CDX1 in children with anorectal malformations.
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肛门直肠畸形儿童 CDX1 突变和下调
DOI：
10.7150/ijms.4929
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发表时间：
2013
影响因子：
3.6
通讯作者：
Wang WL
中科院分区：
文献类型：
--
作者：
Zhang T;Tang XB;Wang LL;Bai YZ;Qiu GR;Yuan ZW;Wang WL
背景：肛门直肠畸形（ARMs）是一种涉及肛门直肠异常终止的先天性疾病。本研究旨在揭示CDX 1与人类ARMs表型的关系。方法：108例患者和120例对照者被纳入本研究。通过PCR、qRT-PCR、western blot和免疫荧光等方法分析两者之间的关系。结果：ARMs患者CDX 1基因有4个杂合突变（3.7%，4/108），而对照组中未发现杂合突变。与对照组相比，ARMs中CDX 1蛋白表达显著降低。与正常对照组相比，ARMs组CDX 1 mRNA表达下调，差异有统计学意义。结论：CDX 1基因突变与CDX 1基因型有关。CDX 1的下调可能与ARMs的发生有关。
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.
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