Thromb Haemost 1996; 76(05): 735-737
DOI: 10.1055/s-0038-1650652
Original Article
Schattauer GmbH Stuttgart

Detection of Factor V Leiden from a Drop of Blood by PCR-SSCP

Javier Corral
The Unidad de Hematología-Hemoterapia, Hospital General Universitario, School of Medicine, Murcia, Spain
,
Juan A Iniesta
1   Unidad de Neurología, Hospital General Universitario, School of Medicine, Murcia, Spain
,
Rocio González-Conejero
The Unidad de Hematología-Hemoterapia, Hospital General Universitario, School of Medicine, Murcia, Spain
,
Vicente Vicente
The Unidad de Hematología-Hemoterapia, Hospital General Universitario, School of Medicine, Murcia, Spain
› Author Affiliations
Further Information

Publication History

Received 19 March 1996

Accepted after resubmission 29 July 1996

Publication Date:
11 July 2018 (online)

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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