The study on correlation between PROC gene mutation and venous thrombosis

VernacularTitle:PROC基因突变与静脉血栓栓塞的相关性
Author: Zhigang ZHAO ; Wenkai ZHANG ; Bo LI ; Qing CHENG ; Guoguo ZHU ; Zhongzhi TANG
Publication Type:Journal Article
Keywords: Protein C; Venous thrombosis; Gene mutation
From: The Journal of Practical Medicine 2016;32(3):421-424
CountryChina
Language:Chinese
Abstract: Objective To study the effect of protein C mutation on venous thrombosis (VTE) by PROC gene sequencing in patients with VTE. Methods Human PROC gene sequence was designed to amplify the third exon region of the PC-Gla domain , and then the PCR products were sequenced to search for a single nucleotide mutation (SNVs). The SNVs was constructed into eukaryotic expression system and a stable expression of wild-type and mutant PC cells were also constructed. At the same time , the distribution of PC levels in normal and VTE patients were detected with ELISA. Results Three single nucleotide mutations were found in different patients. In HUVEC cells, the synthesis of PC decreased in each mutant strain. The PC level in the normal patients , VTE patients , and the mutant samples were detected , which were significantly lower in the mutant samples than that of the VTE group (P = 0.035 3) and the normal level (P < 0.000 1). Conclusion Three mutation sites PCArg-1Cys , PCVal34Met and PCArg9Cys are important genetic factors lead to a significant decrease in plasma PC levels and the increase of VTE risk.