Wang Xing, Sheng Guang-Ying, Zhang Wei, Zhao Yun-Xiao, Xia Li-Jun, Jiang Miao
Jiangsu Institute of Hematology, Key Laboratory of Thrombosis & Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University;Suzhou 215006, Jiangsu Province, China，Collaborative Innovation Center of Hematology, Soochow University, Suzhou 215006, Jiangsu Province, China.
Jiangsu Institute of Hematology, Key Laboratory of Thrombosis & Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University;Suzhou 215006, Jiangsu Province, China，Collaborative Innovation Center of Hematology, Soochow University, Suzhou 215006, Jiangsu Province, China,E-mail：
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Apr;29(2):591-595. doi: 10.19746/j.cnki.issn.1009-2137.2021.02.045.
To test the anticoagulation functions, perform the genetic diagnosis and analyze the clinical characteristics in a family with combined heterozygous genetic variants of PROC and PROS1.
Peripheral blood was collected from all the family members. Hematological phenotypes and activity of anticoagulant factors were analyzed. Target genes were amplified by PCR from DNA isolated from peripheral blood, and then were analyzed by Sanger DNA sequencing.
Many members in the family displayed the combined genetic variants in protein C and protein S, and six family members accompanied by deep venous thrombosis (DVT). The influences of genetic and secondary factors on the incidence of venous thrombosis in the family members were analyzed. The results showed that in this family, carriers of combined protein C and protein S gene defects had a higher incidence of VTE, but acquired factors still played a key role in the eventual thrombotic symptoms.
Venous thromboembolism (VTE) is a multifactorial disease, the combined genetic heterozygous mutations of protein C and S is an important genetic factor, and the clinical phenotype show a high heterogenicity, the secondary factors contribute to the VTE incidence.
检测一个伴有蛋白C（PROC）和蛋白S（PROS1）复合杂合基因变异的家系的抗凝功能，进行基因诊断并分析其临床特征。
采集该家系所有成员的外周血。分析血液学表型和抗凝因子活性。从外周血分离的DNA中通过聚合酶链反应（PCR）扩增目标基因，然后通过桑格DNA测序进行分析。
该家系中许多成员存在蛋白C和蛋白S的复合基因变异，6名家庭成员伴有深静脉血栓形成（DVT）。分析了遗传因素和继发因素对家系成员静脉血栓形成发生率的影响。结果显示，在这个家系中，蛋白C和蛋白S基因联合缺陷的携带者发生静脉血栓栓塞（VTE）的发生率较高，但获得性因素在最终的血栓形成症状中仍起关键作用。
静脉血栓栓塞症（VTE）是一种多因素疾病，蛋白C和S的复合遗传杂合突变是一个重要的遗传因素，临床表型具有高度异质性，继发因素影响VTE的发生率。
