Rapid detection of factor V Leiden (FVQ506) by non-radioactive single strand conformation polymorphism (SSCP).
The transition G-->A at position 506 of the factor V gene is responsible for resistance to the anticoagulant effect of activated protein C (APC-resistance), and represents the most common hereditary risk factor for venous thrombosis. A comparison of the ability of non-radioactive single-strand conformation polymorphism (SSCP) and of a standard PCR procedure followed by further digestion with MnlI to detect this factor V gene (FVQ 506) transition indicates that these is a good agreement between the two methods. Non-radioactive SSCP analysis therefore represents a rapid and sensitive alternative for the diagnosis of this important point mutation.
Arruda
V R
VR
Hematology-Hemotherapy Center, State University of Campinas, UNICAMP, SP, Brazil.
von Zuben
P M
PM
Annichino-Bizzachi
J M
JM
Costa
F F
FF
D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D004198:Disease Susceptibility; D005165:Factor V / Q000032:analysis* / Q000235:genetics; D005166:Factor V Deficiency / Q000150:complications / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D016622:Silver Staining; D013923:Thromboembolism / Q000209:etiology
C095381:factor V Leiden; D005165:Factor V; C052155:endodeoxyribonuclease MnlI; D015252:Deoxyribonucleases, Type II Site-Specific