印度静脉血栓形成患者遗传性蛋白 C 缺乏症。

Hereditary protein C deficiency in Indian patients with venous thrombosis.

机构信息

National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai, 400012, India.

出版信息

Ann Hematol. 2012 Sep;91(9):1471-6. doi: 10.1007/s00277-012-1483-5. Epub 2012 May 11.

Abstract

Approximately, 4-11 % of the patients with idiopathic venous thrombosis (VT) show protein C (PC) deficiency. The molecular pathology of PC deficiency was analyzed in 102 patients; 98 healthy controls were also studied to assess the association of various polymorphisms with reduced PC levels. PROC gene mutations were detected only in 8 (7.8 %) patients with reduced PC levels. PROC promoter region CG polymorphisms showed statistically significant association with reduced PC levels (p < 0.001). PC deficiency in Indian VT patients can, thus, largely be explained by PROC gene promoter CG polymorphisms; only a small fraction of the patients show specific mutations in PROC gene.

摘要

约有 4-11%的特发性静脉血栓形成（VT）患者存在蛋白 C（PC）缺陷。对 102 例 PC 缺陷患者进行了分子病理学分析；同时还研究了 98 名健康对照者，以评估各种多态性与 PC 水平降低的相关性。仅在 8 例（7.8%）PC 水平降低的患者中检测到 PROC 基因突变。PROC 基因启动子 CG 多态性与 PC 水平降低呈统计学显著相关（p<0.001）。因此，印度 VT 患者的 PC 缺陷在很大程度上可以用 PROC 基因启动子 CG 多态性来解释；只有一小部分患者在 PROC 基因中显示出特定的突变。