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  • Prothrombin G20210A (Factor II; WHO)

Prothrombin mutation G20210A (F2)

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.

1st International Genetic Reference Panel for Prothrombin Mutation G20210A Genotyping

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.

How to order

To place an order please login to your account or sign up for a new account. 

For scientific enquiries contact the team at grmteam@nibsc.org.

Key Staff

Dr Ross Hawkins – Section Head
Dr Ravneet Bhuller
Mr Malcolm Hawkins 
Dr Leandro Lo Cascio
Mr Noble Ossai
Dr Pia Sanzone
Mr Miltiades Stylianou

Available standards

05/130: WHO International Genetic Reference Panel for Prothrombin Mutation G20210A, Human gDNA

Other genomic reference materials 

Ordering genomic reference materials

Further information on ordering genomic reference materials from NIBSC. 

Contact us 

grmteam@nibsc.org

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