Journal List > Tuberc Respir Dis > v.64(6) > 1001247

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Min, Kim, Park, Chae, and Choi: A Case of Pulmonary Embolism in a Patient with a Factor VII Gene Promoter -401G/A Polymorphism
Case Report
Tuberculosis and Respiratory Diseases

Tuberculosis and Respiratory Diseases 2008; 64(6): 466-470.

Published online: 30 June 2008

DOI: https://doi.org/10.4046/trd.2008.64.6.466

A Case of Pulmonary Embolism in a Patient with a Factor VII Gene Promoter -401G/A Polymorphism

Bo Ram Min, M.D.1, Shin Kim, M.D.2, Ji Hae Park, M.D.1, Jin Nyeong Chae, M.D.1, Won Il Choi, M.D.1

1Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.

2Department of Immunology, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.

Address for correspondence: Won Il Choi, M.D. Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine, 194, Dong san-dong, Jung-gu, Daegu 700-712, Korea. Phone: 82-53-250-7572, Fax: 82-53-250-7434, wichoi@dsmc.or.kr

Received 29 May 2008       Accepted 13 June 2008

Copyright © 2008 The Korean Academy of Tuberculosis and Respiratory Diseases

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.

Keywords: Factor VII, Pulmonary embolism, Genetic polymorphism

Figures and Tables

Figure 1
On the chest CT scan, multiple intraluminal filling defects were noted in both interlobar and segmental pulmonary arteries.
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Figure 2
Purified factor VII cDNA was analyzed by direct forward and backward sequencing, and a substitution from G to A on promoter -401 was detected by comparing the sequence with that of the human factor VII gene full sequence The alignment of genomic cDNA reverse sequence of Factor VII promoter in Factor VII deficiency patient.
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Figure 3
Factor VII gene expression was assessed in samples from both the patient and a control subject using an RT-PCR-based assay and 2% agarose gel electrophoresis. The normal amplication is shown at the line N. The patient amplication is shown at the line C. The transcription level in the patient seems to be lower because the genetic bands of the patient were thinner than those of the normal one.
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Table 1
Specific primer sequences and the temperature profile of the polymerase chain reaction
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