Use of the direct RNA amplification technique NASBA to detect factor V Leiden, a point mutation associated with APC resistance

P H Reitsma; P A van der Velden; E Vogels; D van Strijp; N Tacken; H Adriaansen; B van Gemen

doi:10.1097/00001721-199609000-00012

Use of the direct RNA amplification technique NASBA to detect factor V Leiden, a point mutation associated with APC resistance

Blood Coagul Fibrinolysis. 1996 Sep;7(6):659-63. doi: 10.1097/00001721-199609000-00012.

Authors

P H Reitsma¹, P A van der Velden, E Vogels, D van Strijp, N Tacken, H Adriaansen, B van Gemen

Affiliation

¹ Department of Hematology, University Hospital, Leiden, The Netherlands.

PMID: 8899156
DOI: 10.1097/00001721-199609000-00012

Abstract

APC resistance is a common and strong hereditary risk factor for venous thrombosis. This plasma abnormality appears to be almost always caused by the same defect in the coagulation factor V gene (a G --> A transition at nucleotide 1691 leading to replacement of 506 Arg by Gln; factor V Leiden). Therefore, it is possible to consider a simple and specific genetic test as an alternative to a plasma APC resistance test that is compromised by treatment and other factors. We have investigated whether a new amplification procedure, NASBA, together with the detection procedure ELGA would provide a simple protocol for the nucleotide specific detection of the factor V mutation.

MeSH terms

Alleles
Blood Coagulation Factors*
Enzyme-Linked Immunosorbent Assay / methods*
Factor V / analysis*
Factor V / genetics
Gene Amplification*
Humans
Partial Thromboplastin Time
Point Mutation*
Protein C / physiology
RNA*
Receptors, Cell Surface / metabolism*
Thrombophlebitis / genetics

Substances

Blood Coagulation Factors
Protein C
Receptors, Cell Surface
activated protein C receptor
factor V Leiden
RNA
Factor V