Rapid detection of factor V Leiden (FVQ506) by non-radioactive single strand conformation polymorphism (SSCP).
- Resource Type
- Academic Journal
- Authors
- Arruda VR; Hematology-Hemotherapy Center, State University of Campinas, UNICAMP, SP, Brazil.; von Zuben PM; Annichino-Bizzachi JM; Costa FF
- Source
- Publisher: C Elosegui Y J Guasch Country of Publication: Spain NLM ID: 0404373 Publication Model: Print Cited Medium: Print ISSN: 0036-4355 (Print) Linking ISSN: 00364355 NLM ISO Abbreviation: Sangre (Barc) Subsets: MEDLINE
- Subject
- Language
- English
- ISSN
- 0036-4355
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.