PROC基因启动子区域与肺血栓栓塞症的关系

Association of PROC gene promoter region with pulmonary thromboembolism

目的:探讨蛋白C编码(PROC)基因启动子区域与肺血栓栓塞症(PTE)的关系。方法:选取2021年3月—2023年3月深圳市龙华区人民医院收治的25例PTE患者的血液标本为病例组,同期采取32例健康人群的血液标本为对照组,提取DNA,利用Sanger方法测序PROC基因启动子区域,了解PTE患者与健康人群的基因突变情况。结果:共发现rs1799808、rs1799809,127417268T>C等3个位点的突变。其中127417268T>C是新发现的位点。结论:127417268T>C是新发现的位点,并且基因启动子区域127417268T>C突变位点以及rs1799809位点突变可能与PTE相关联。

Objective To explore the relationship between the promoter region of protein C coding(PROC)gene and pulmonary thromboembolism(PTE).Methods Selected 25 blood samples from patients with PTE admitted to Longhua People's Hospital of Shenzhen from March 2021 to March 2023 as the case group,and 32 blood samples from healthy individuals as the control group during the same period.DNA was extracted and the promoter region of the PROC gene was sequenced using the Sanger method to understand the gene mutations in patients with PTE and healthy individuals.Results A total of three mutations were found,including rs1799808,rs1799809,127417268T>C.Among them,127417268T>C was the newly discovered site.Conclusions 127417268T>C is a newly discovered site,and the mutation site of 127417268T>C in the gene promoter region and the rs1799809 mutation site may be associated with PTE.