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

P Aruna Prabhavathi; Tajamul Hussain; G N Mallikarjuna Rao; Mp Js Anandaraj

doi:10.1007/BF02867948

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. 2002 Jan;17(1):94-8. doi: 10.1007/BF02867948.

Authors

P Aruna Prabhavathi¹, Tajamul Hussain, G N Mallikarjuna Rao, Mp Js Anandaraj

Affiliation

¹ Institute of Genetics, Osmania University, Begumpet, 500 016 Hyderabad, (AP) ; Hospital for Genetic Diseases, Osmania University, Begumpet, 500 016 Hyderabad, (AP).

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.

Keywords: Bcl I and Xba I polymorphisms and carrier detection; Haemophilia A; PCR.