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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| Authors: | P Aruna Prabhavathi Tajamul Hussain G N Mallikarjuna Rao MP JS Anandaraj |
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| Institution: | (1) Institute of Genetics, Osmania University, Begumpet, 500 016 Hyderabad, (AP);(2) Hospital for Genetic Diseases, Osmania University, Begumpet, 500 016 Hyderabad, (AP) |
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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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| Keywords: | Haemophilia A PCR Bcl I and Xba I polymorphisms and carrier detection |
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