Detection of a common mutation in factor V gene responsible for resistance to activated protein C causing predisposition to thrombosis

Hereditary predisposition to thrombosis due to activated protein C resistance (APCR) has been attributed to a missense mutation in the factor V gene at nucleotide 1691 (G to A), causing replacement of arginine at codon 506 with glutamine. Using an RFLP‐PCR assay to detect this mutation, we measured...

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Bibliographic Details
Published in:	Journal of clinical laboratory analysis Vol. 11; no. 6; pp. 328 - 335
Main Authors:	Ferreira-Gonzalez, A., Fisher, LM, Lehman, CM, Langley, MH, Lofland, DH, Xia, Q, Nguyen, NX, Modesto, D, Willoughby, JB, Wilkinson, DS, Garrett, CT
Format:	Journal Article
Language:	English
Published:	New York Wiley Subscription Services, Inc., A Wiley Company 1997
Subjects:	APCR hereditary activated protein C resistance hereditary thrombosis Original RFLP-PCR
Online Access:	Get full text
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Summary:	Hereditary predisposition to thrombosis due to activated protein C resistance (APCR) has been attributed to a missense mutation in the factor V gene at nucleotide 1691 (G to A), causing replacement of arginine at codon 506 with glutamine. Using an RFLP‐PCR assay to detect this mutation, we measured a prevalence of 3.3% in healthy Caucasians and 1.25% in healthy African‐Americans. In addition, we evaluated a total of 90 consecutive specimens submitted to the coagulation laboratory at the Medical College of Virginia for the presence of this mutation. We compared our results for 78 of these specimens with the values measured by a modified partial thromboplastin assay, the COATEST. Twelve of the 90 samples could not be tested using the COATEST because the patients were undergoing anticoagulant therapy. One of the latter 12 specimens was positive by the RFLP‐PCR test. Using the genetic test as the definitive assay and the cutoff value established for distinguishing between normal and abnormal results by the COATEST, the COATEST had a sensitivity of 50% and specificity of 93% for the detection of factor V mutation. Analysis of the 90 samples stratified by ethnic groups revealed a frequency of mutation of 13.3% for Caucasians and 6.88% for African‐Americans, although with the present sample size, the difference was not statistically significant. Although the COATEST is technically simpler to perform than the genetic test for diagnosing the presence of the factor V mutation, its use for this purpose is limited due to low sensitivity. Thus where this disorder is clinically suspected, submission of the specimen directly for genetic testing by RFLP‐PCR or equivalent assay should be considered. J. Clin. Lab. Anal. 11:328–335, 1997. © 1997 Wiley‐Liss, Inc.
Bibliography:	ark:/67375/WNG-2Z23GQK9-C istex:CCC6A70B179B0BF138A1255DB0699E68FE9C3E70 ArticleID:JCLA3 ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23
ISSN:	0887-8013 1098-2825
DOI:	10.1002/(SICI)1098-2825(1997)11:6<328::AID-JCLA3>3.0.CO;2-1