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Analysis of Bcl I and Xba I polymorphism in factor VIII gene to detect carriers of haemophilia a in Andhra Pradesh

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Abstract

The efficacy of two intragenic polymorphic markers of factor VIII gene has been examined in Andhra Pradesh population with a view to confirm/revise the strategy for carrier detection that would be precise and economical. The haemophilia A carrier was detected using Bcl I and Xba I polymorphic sites in intron 18 and 22 respectively. The cumulative efficiency of these two sites for detection of carriers is 100% since all 15 families tested were informative for one of these polymorphisms, thus confirming their usefulness for factor VIII gene mutations found in Andhra Pradesh.

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Prabhavathi, P.A., Hussain, T., Mallikarjuna Rao, G.N. et al. Analysis of Bcl I and Xba I polymorphism in factor VIII gene to detect carriers of haemophilia a in Andhra Pradesh. Indian J Clin Biochem 17, 94–98 (2002). https://doi.org/10.1007/BF02867948

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