A Case of Pulmonary Embolism in a Patient with a Factor VII Gene Promoter -401G/A Polymorphism.
10.4046/trd.2008.64.6.466
- Author:
Bo Ram MIN
1
;
Shin KIM
;
Ji Hae PARK
;
Jin Nyeong CHAE
;
Won Il CHOI
Author Information
1. Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea. wichoi@dsmc.or.kr
- Publication Type:Case Report
- Keywords:
Factor VII;
Pulmonary embolism;
Genetic polymorphism
- MeSH:
Aged;
DNA;
Dyspnea;
Factor VII;
Female;
Gene Expression;
Hematologic Tests;
Humans;
Polymorphism, Genetic;
Promoter Regions, Genetic;
Prothrombin Time;
Pulmonary Embolism;
Thorax;
Warfarin
- From:Tuberculosis and Respiratory Diseases
2008;64(6):466-470
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A factor VII gene -401 G/A polymorphism was identified in a patient with a pulmonary embolism. The patient was a 71-year-old woman who presented with acute-onset dyspnea. A chest CT scan revealed a pulmonary embolism. Despite the administration of low-dose warfarin as anticoagulation therapy, there was an excessively prolonged prothrombin time (PT). The blood tests revealed lower factor VII activity than normal. Full factor VII gene sequencing revealed a G to A substitution at ?401 in the promoter region. There were no other gene sequence anomalies. PCR-based analysis indicated lower factor VII gene expression in the patient than in a control subject. The data suggested the promoter polymorphism to be responsible for the lower transcription level. In conclusion, we encountered a case of Factor VII DNA polymorphism in a patient with a pulmonary embolism showing significantly reduced Factor VII activity.
