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A genotyping method for VKORC1 1173C>T by Pyrosequencing® technology
Linköping University, Faculty of Health Sciences. Linköping University, Department of Clinical and Experimental Medicine, Clinical Chemistry. Östergötlands Läns Landsting, Centre for Laboratory Medicine, Department of Clinical Chemistry.
Linköping University, Faculty of Health Sciences. Linköping University, Department of Clinical and Experimental Medicine, Clinical Chemistry. Östergötlands Läns Landsting, Centre for Laboratory Medicine, Department of Clinical Chemistry.
2008 (English)In: Scandinavian Journal of Clinical and Laboratory Investigation, ISSN 0036-5513, E-ISSN 1502-7686, Vol. 68, no 5, 427-430 p.Article in journal (Refereed) Published
Abstract [en]

Vitamin K epoxide reductase complex subunit 1 (VKORC1) is the site of inhibition by warfarin and other anti-vitamin K drugs during oral anticoagulant therapy. The SNP rs9934438 in intron 1 of VKORC1 (c.173+1000C>T or 1173C>T) discriminating the VKORC1*2 haplotype is associated with low warfarin dose requirement and unstable prothrombin time - international normalized ratio. To genotype this SNP, we have developed a rapid method using Pyrosequencing® technology. The proposed method takes a post-PCR sample preparation of less than 1 h and a DNA sequencing time of less than 15 min to genotype 96 samples. The current method was compared with a dHPLC method that we reported previously. Genotype frequencies at VKORC1 1173C>T for our Swedish population were 38 % wild-type, 40 % heterozygote and 22 % homozygote. The frequency of the T-allele was 0.42, which exactly matches the frequency previously reported for Germans. The current method can be used to determine whether patients initiating warfarin therapy are carriers of SNP 1173 C>T that is strongly associated with low warfarin dose requirement. © 2008 Informa UK Ltd (Informa Healthcare, Taylor & Francis AS).

Place, publisher, year, edition, pages
2008. Vol. 68, no 5, 427-430 p.
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Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-44244DOI: 10.1080/00365510701810621Local ID: 76107OAI: oai:DiVA.org:liu-44244DiVA: diva2:265106
Available from: 2009-10-10 Created: 2009-10-10 Last updated: 2017-12-13

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Osman, AbdimajidLindahl, Tomas

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