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폐색전증 환자에서 발견된 Factor VII 유전자의 프로모터 -401G/A 다형성 1예

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Author(s)
민보람김신박지혜채진녕최원일
Keimyung Author(s)
Choi, Won IlKim, Shin
Department
Dept. of Internal Medicine (내과학)
Dept. of Immunology (면역학)
Journal Title
결핵 및 호흡기 질환
Issued Date
2008
Volume
64
Issue
6
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. (Tuberc Respir Dis 2008;64:466-470)
Key Words: Factor VII, Pulmonary embolism, Genetic polymorphism
저자들은 저자들은 폐색전증이 발생한 환자에서 기저질
환을 조사하던 중 Factor VII 활성도 저하를 관찰하였고,
이 환자에게서 Factor VII 유전자의 프로모터 -401의 단염
기 치환(G→A)을 발견하여 보고하며, 국내에도 Factor VII
유전자 다형성이 존재함을 밝히며, Factor VII 활성도 감소
와 폐색전증이 동반된 환자를 보고하는 바이다.
Alternative Title
A Case of Pulmonary Embolism in a Patient with a Factor VII Gene Promoter -401G/A Polymorphism
Keimyung Author(s)(Kor)
최원일
김신
Publisher
School of Medicine
Citation
민보람 et al. (2008). 폐색전증 환자에서 발견된 Factor VII 유전자의 프로모터 -401G/A 다형성 1예. 결핵 및 호흡기 질환, 64(6), 466–470. doi: 10.4046/trd.2008.64.6.466
Type
Article
ISSN
1738-3536
DOI
10.4046/trd.2008.64.6.466
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/37334
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Immunology (면역학)
1. School of Medicine (의과대학) > Dept. of Internal Medicine (내과학)
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