ARMS test for diagnosis of factor VLeiden mutation, a common cause of inherited thrombotic tendency

Journal of Clinical Laboratory Analysis
C N YandavaE J Neufeld

Abstract

We developed a simple and rapid amplification-refractory mutation system (ARMS) assay for the factor V mutation [R506Q] (factor VLeiden), which results in the autosomal dominant thrombotic tendency, resistance to activated protein C (rAPC). PCR primers within Exon 10 of the factor V gene were designed. A common upstream primer was paired with either a mutant or wild-type-specific downstream primer. The 3'-most nucleotide of the specific primers recognized either the mutant or normal allele, and the 3' penultimate nucleotide was mismatched to enhance specificity of the reaction. The assay was validated using authentic factor VLeiden DNA samples. Seven of 103 hematologically normal children (6.8%) were found to be heterozygotes. Among 27 patients studied by the rAPC assay, ARMS assay and rAPC results were concordant in 26. Among these were a 1-year-old child with a calcified clot in the inferior vena cava. Both the patient and his father were heterozygous for the mutation and both had abnormal rAPC assays. rAPC and factor VLeiden assays were discordant in a young girl with a history of stroke. Biochemical rAPC assay was abnormal, while ARMS assay revealed amplification only with wild-type primers, suggesting a non-[R506Q] mechani...Continue Reading

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Citations

Mar 3, 1999·Canadian Journal of Anaesthesia = Journal Canadien D'anesthésie·B C OngF A Burrows
May 4, 2007·International Journal of Laboratory Hematology·P C Cooper, S M Rezende
Jul 26, 2011·Journal of Clinical Laboratory Analysis·Herin Oh, Cassandra L Smith
Sep 5, 2002·The Journal of Bone and Joint Surgery. American Volume·M Timothy HreskoEllis J Neufeld

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