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Objective · To explore the correlation between variants located in 3' untranslated regions (3'UTR) of NOTCH1 and JAG1 genes and conotruncal heart defects (CTD). Methods · Six hundred CTD children without 22q11 deletion and three hundred healthy children were enrolled in this hospital-based case-control study. Variants located in the 3'UTR regions of NOTCH1 and JAG1 genes were detected by high-throughput sequencing. The accuracy of the variants were verified by PCR and Sanger sequencing. Online software PicTar, TargetScan and microRNA.org were used to make functional predictions. Results · One mutation and three SNPs were found in the 3'UTR of NOTCH1. Three mutations and six SNPs were found in the 3'UTR of JAG1. The genotypic distributions of two SNPs (rs3840074 and rs8708) located in JAG13'UTR between CTD group and the controls were statistically significant (both P<0.05). Results of prediction showed that all the four mutations and two meaningful SNPs could bind to microRNA. Conclusion · The variants located in 3'UTR regions of NOTCH1 and JAG1 genes may be related to the occurrence of CTD.
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Objective To observe the expression of PECAM-1 in colorectal cancer in rat and to explore the mechanism of lymphatic metastasis of tumor. Methods Wistar rats were used to make the animal model of primary colorectal cancer,by using HE staining,the cancer type and progression of cancer were devided.By immunohistochemistry staining,the expression of PECAM-1 in tumor tissue,blood vessels and lymphatic vessels were observed. Results PECAM-1 expression in blood vessels and lymphatic vessels were observed in normal tissue,while its expression on tumor tissue and lymphatic vessels decreased according to the cancer progression.Conclusion PECAM-1 may be involved in the early process of tumor cells adhering to the endothelium;decreased expresson of PECAM-1 on lymphatics may be related with lymphangiogenesis and the opening of endothelial junction of lymphatic vessels.
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Objective To study the ultrastructural features of initial lymphatics of gastric carcinoma,to discuss the metastasis mechanism of malignant cells by lpmphatics. Methods The postoperative samples of patients with gastric cancer were obtained in center,peripheral and normal region of cancer.Common Resin-embedded specimens were made.Lymphatics were located by hemithin sections under light microscope and observed by ultrathin sections under electron microscope. Results There were no lymphatics in carcinomatous centre region.Compared with normal region,there were more initial lymphatics in peripheral region of gastric carcinoma.The lumina were dilated and irregular and the endothelium were destroyed;The organelle of endothelial cells changed obviously.The distribution and morphology of the lymphatics did not changed evidently in the normal region.Conclusion These results suggest that amount,ultrastructure and morphology of lymphatics changed in peripheral region of carcinoma;Gastric cancer cells may invade lymphatics via destroyed parts of endothelium or interendothelial openings.