Rapid detection of factor V Leiden (FVQ506) by non-radioactive single strand conformation polymorphism (SSCP).

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. -->
Substance Nomenclature: 0 (factor V Leiden)
9001-24-5 (Factor V)
EC 3.1.21.- (endodeoxyribonuclease MnlI)
EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific)
Entry Date(s): Date Created: 19961001 Date Completed: 19970220 Latest Revision: 20041117
Update Code: 20221213
PMID: 8986114
Autor: Arruda VR; Hematology-Hemotherapy Center, State University of Campinas, UNICAMP, SP, Brazil., von Zuben PM, Annichino-Bizzachi JM, Costa FF
Jazyk: angličtina
Zdroj: Sangre [Sangre (Barc)] 1996 Oct; Vol. 41 (5), pp. 379-81.
Abstrakt: 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.
Databáze: MEDLINE
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