Tuberc Respir Dis.  2008 Jun;64(6):466-470.

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

Affiliations
  • 1Department of Internal Medicine, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea. wichoi@dsmc.or.kr
  • 2Department of Immunology, Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.

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.

Keyword

Factor VII; Pulmonary embolism; Genetic polymorphism

MeSH Terms

Aged
DNA
Dyspnea
Factor VII
Female
Gene Expression
Hematologic Tests
Humans
Polymorphism, Genetic
Promoter Regions, Genetic
Prothrombin Time
Pulmonary Embolism
Thorax
Warfarin
DNA
Factor VII
Warfarin

Figure

  • Figure 1 On the chest CT scan, multiple intraluminal filling defects were noted in both interlobar and segmental pulmonary arteries.

  • 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.

  • 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.


Reference

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