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RNA-seq Analysis of Transcriptomes in Thrombin-treated and Control Human Pulmonary Microvascular Endothelial Cells
Published on: February 13, 2013
Prothrombin gene mutation uncommon in pulmonary embolism.
R E Kohlmeier1, C G Cho, R C Bux
1Department of Pathology, University of Texas Health Science Center and Audie L. Murphy Veteran's Hospital, San Antonio 78284-7750, USA.
Southern Medical Journal
|November 30, 2000
Summary
Genetic mutations in prothrombin and factor V genes are not common in individuals who die suddenly from pulmonary embolism. Routine testing for these inherited thrombophilias is not recommended for medical examiners.
Area of Science:
- Forensic pathology
- Medical genetics
- Cardiovascular research
Background:
- Pulmonary embolism (PE) is a leading cause of sudden death in middle-aged adults.
- Inherited thrombophilias, such as prothrombin gene mutation (G20210A) and factor V Leiden mutation (R506Q), increase venous thrombosis risk.
Purpose of the Study:
- To determine the prevalence of prothrombin and factor V gene mutations in individuals who died from pulmonary embolism.
- To assess the utility of routine genetic testing for these mutations in forensic pathology.
Main Methods:
- Retrospective study of 67 autopsy cases of pulmonary embolism over 5 years.
- Mutation analysis using polymerase chain reaction and allele-specific endonuclease digestion.
Main Results:
- Prothrombin gene mutation found in 4% (3/67) and factor V gene mutation in 4% (3/66) of cases.
- No significant difference in mutation prevalence compared to the general population.
- Traditional risk factors for PE were present in 75% of individuals.
Conclusions:
- Prothrombin and factor V gene mutations are infrequently associated with sudden death due to pulmonary embolism.
- Routine genetic screening for these mutations is not warranted in medicolegal death investigations of PE.
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