Gu Y, Shen W, Zhang L, Zhang J, Ying C
Department of Laboratory Medicine, Ren Ji Hospital School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Int J Lab Hematol. 2014 Apr;36(2):151-5. doi: 10.1111/ijlh.12146. Epub 2013 Sep 13.
Antithrombin and protein C gene deficiencies are commonly inherited risk factors for VTE patients. We aim to investigate the deficiency of these two gene in 202 Chinese patients with venous thromboembolism (VTE).
Antithrombin activity (AT: A) and protein C activity (PC: A) were measured in 202 VTE patients, and for those with unexplainable low results, PCR and direct sequencing of the related genes were carried out.
Deficiency levels of antithrombin and protein C gene were found to be 2% and 8%, respectively. AT or PC hereditary deficiency can be found in 10% patients with VTE.
Protein C gene deficiency might be more prevalent than AT gene deficiency in Chinese VTE patients. Functional assay combined with genetic analysis is useful in the diagnosis of inherited defects in VTE patients.
抗凝血酶和蛋白C基因缺陷是静脉血栓栓塞症（VTE）患者常见的遗传风险因素。我们旨在调查202例中国静脉血栓栓塞症（VTE）患者中这两种基因的缺陷情况。
检测了202例VTE患者的抗凝血酶活性（AT:A）和蛋白C活性（PC:A），对于结果无法解释的低值患者，进行了相关基因的PCR和直接测序。
发现抗凝血酶和蛋白C基因的缺陷水平分别为2%和8%。10%的VTE患者存在AT或PC遗传性缺陷。
在中国VTE患者中，蛋白C基因缺陷可能比抗凝血酶基因缺陷更为普遍。功能检测联合基因分析有助于诊断VTE患者的遗传性缺陷。
