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Thromb Haemost 1997; 77(01): 119-122
DOI: 10.1055/s-0038-1655917
Coagulation
Schattauer GmbH Stuttgart

Genetic Diagnosis of Factor V Leiden Using Heteroduplex Technology

D J Bowen
1   The hemostasis Research Laboratory, The Arthur Bloom Center, Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, S Wales, UK
,
G R Standen
2   Molecular Haematology Unit, Department of Haematology, Bristol Royal Infirmary, Bristol, UK
,
S Granville
1   The hemostasis Research Laboratory, The Arthur Bloom Center, Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, S Wales, UK
,
S Bowley
1   The hemostasis Research Laboratory, The Arthur Bloom Center, Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, S Wales, UK
,
N A P Wood
3   Department of Transplantation Sciences, University of Bristol, Bristol Homoeopathic Hospital Site, Bristol, UK
,
J Bidwell
3   Department of Transplantation Sciences, University of Bristol, Bristol Homoeopathic Hospital Site, Bristol, UK
› Author Affiliations
Further Information

Publication History

Received 08 July 1996

Accepted after revision 30 September 1996

Publication Date:
11 July 2018 (online)

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Summary

A new genetic test has been developed for detection of the mutation known as factor V Leiden. The test employs heteroduplex technology and comprises a single PCR reaction followed immediately by PCR product analysis. It therefore represents the minimum practical route from blood/tissue sample to genetic result. A cohort of 100 patients with a history of thrombosis have been screened using both the new heteroduplex test and a previously described PCR-restriction endonuclease test. Results gave 100% correlation: normals 75 (75%), heterozygotes 24 (24%) and homozygotes 1 (1%). The heteroduplex test has been shown to give straightforward diagnosis in three different analytical systems: standard polyacrylamide gel electrophoresis (PAGE), mini-gel PAGE and capillary electrophoresis. The latter system is semiautomated, therefore rapid through-put of large sample numbers is now · possible.

 

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