Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Thong Nhat General Hospital, Dong Nai, Vietnam.
Int J Lab Hematol. 2021 Apr;43(2):266-272. doi: 10.1111/ijlh.13345. Epub 2020 Sep 23.
Genetic mutations of PROC and PROS1 are well-known risk factors for deep venous thrombosis (DVT) in the Asian population. However, the genetic profile of Vietnamese patients with DVT remains elusive. This study aimed to investigate the spectrum of genetic mutations of these two genes in Vietnamese patients diagnosed with idiopathic DVT.
A total of 50 Vietnamese patients diagnosed with idiopathic DVT were recruited in this study. The entire coding regions of the protein C and protein S genes were amplified and directly sequenced to determine genetic alterations.
Four and six genetic mutations were detected in protein C and protein S genes, respectively, in 24 Vietnamese DVT patients. PROC c.565C > T (p.R189W) was the most common mutation found in 13 out of 50 patients, while the mutations of PROS1 comprised three missense and three nonsense variants which diffuse along the gene.
This study shows that mutations of protein C and protein S genes are prevalent in Vietnamese patients diagnosed with idiopathic DVT, and PROC c.565C > T (p.R189W) was the most common genetic alteration.
PROC 和 PROS1 的基因突变是亚洲人群深静脉血栓形成（DVT）的已知危险因素。然而，越南 DVT 患者的遗传特征仍不清楚。本研究旨在调查在诊断为特发性 DVT 的越南患者中这两个基因的基因突变谱。
本研究共招募了 50 名诊断为特发性 DVT 的越南患者。扩增蛋白 C 和蛋白 S 基因的整个编码区，并直接测序以确定遗传改变。
在 24 名越南 DVT 患者的蛋白 C 和蛋白 S 基因中分别检测到 4 种和 6 种基因突变。PROC c.565C > T（p.R189W）是最常见的突变，在 50 名患者中有 13 名出现，而 PROS1 的突变包括三个错义突变和三个无义突变，沿基因扩散。
本研究表明，蛋白 C 和蛋白 S 基因突变在诊断为特发性 DVT 的越南患者中很常见，PROC c.565C > T（p.R189W）是最常见的遗传改变。
