The Prothrombin gene (F2) is located on chromosome 11p11-q12, spans 21kb and contains 14 exons (OMIM #176930).
The G20210A polymorphism in the 3’ untranslated region of F2 results in increased 3’ end processing and concomitant increased mRNA accumulation and protein synthesis.
The frequency of the polymorphism varies between populations, but is most common in Southern Europe at 3%.
The polymorphism is associated with a 2-4x increased risk of venous thrombosis in heterozygotes and a 10x increase in homozygotes. Along with factor V Leiden, Prothrombin G20210A is one of the most frequent genotyping tests performed in clinical laboratories.
The panel consists of 3 human genomic DNA samples: wild-type Prothrombin, Prothrombin 20210 Homozygote and Prothrombin 20210 Heterozygote. Samples are presented as approximately 10 μg freeze-dried genomic DNA in glass ampoules.
The collaborative validation study data indicates that these materials are suitable for use in PCR-RFLP, melt curve, allele-specific PCR and Taqman-based detection.
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Dr Ross Hawkins – Section HeadDr Ravneet BhullerMr Malcolm Hawkins Dr Leandro Lo CascioMr Noble OssaiDr Pia SanzoneMr Miltiades Stylianou
05/130: WHO International Genetic Reference Panel for Prothrombin Mutation G20210A, Human gDNA
Other genomic reference materials
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