Frequency Estimation of Prothrombin Allelic Polymorphisms in Indian Population

The study here is to estimate the frequency of Prothrombin allelic polymorphisms from randomly selected general population. Prothrombin is a blood-clotting protein, a vitamin K-dependent clotting factor. The gene has a mutation at position 20210, hence the disorder being referred to as Prothrombin mutation 20210. The PT20210 polymorphisms were identified using simple PCR and followed by Restriction Fragment Length Polymorphism. The mutation leads to an increased amount of thrombin circulating in the person's blood stream. About 1-2% of the general population is heterozygous (one copy) for the prothrombin gene mutation. There is contradicting evidence regarding the role of the prothrombin gene mutation and arterial thrombosis. Mutations in the gene for prothrombin (F2 20210A) and factor V (F5 1691A, factor V Leiden) are established risk factors for Deep Venous Thrombosis (DVT) genetic variant in the 38-untranslated region of the prothrombin (factor II) gene (G20210A). Based on the banding patterns observed in the Fig. 1 and 2 samples are interpreted as Homozygote dominant, Homozygote recessive and Heterozygous. From the selected population, concluded that all are Homozygote polymorphic. No polymorphisms which reported to involve in thrombosis are not present in coastal Andhra population. Once large scale studies are completed confirming these results in stroke risk assessment do not need to depend on this marker any more in India.