Use of the direct RNA amplification technique NASBA to detect factor V Leiden, a point mutation associated with APC resistance.
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.
Reitsma
P H
PH
Department of Hematology, University Hospital, Leiden, The Netherlands.
van der Velden
P A
PA
Vogels
E
E
van Strijp
D
D
Tacken
N
N
Adriaansen
H
H
van Gemen
B
B
D000483:Alleles; D001779:Blood Coagulation Factors; D004797:Enzyme-Linked Immunosorbent Assay / Q000379:methods*; D005165:Factor V / Q000032:analysis* / Q000235:genetics; D005784:Gene Amplification; D006801:Humans; D010314:Partial Thromboplastin Time; D017354:Point Mutation; D011486:Protein C / Q000502:physiology; D012313:RNA; D011956:Receptors, Cell Surface / Q000378:metabolism*; D013924:Thrombophlebitis / Q000235:genetics
D001779:Blood Coagulation Factors; D011486:Protein C; D011956:Receptors, Cell Surface; C091963:activated protein C receptor; C095381:factor V Leiden; D012313:RNA; D005165:Factor V