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DOI: 10.1055/s-0038-1650652
Detection of Factor V Leiden from a Drop of Blood by PCR-SSCP
Publikationsverlauf
Received 19. März 1996
Accepted after resubmission 29. Juli 1996
Publikationsdatum:
11. Juli 2018 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00035024/199605/lookinside/thumbnails/10-1055-s-0038-1650652-1.jpg)
Summary
Recently, a point mutation in the coagulation Factor V gene (G to A in position 1691) has been identified which makes the mutant Factor V (called Factor V Leiden) resistant to activated protein C. This defect is a well established genetic risk factor in venous thrombosis. Because of the high prevalence of Factor V Leiden in normal population (2-7%), it would be reasonable to perform a rapid and simple method for screening the genetic abnormality in population at risk.
We have developed a simple, reproducible, rapid and cheap procedure that, using PCR and SSCP, allows the identification of the mutation responsible for Factor V Leiden. Specificity of this method has been tested in 319 samples: 304 normal, 14 heterozygous and 1 homozygous for Factor V Leiden. This assay allows non-isotopic Factor V Leiden identification by using frozen whole blood in 3 h. All these features make this test adequate for routine screening of this mutation in a large number of samples.
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