Predicting severity of haemophilia A and B splicing mutations by information analysis

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Abstract

Summary

Bleeding symptoms and clotting activity vary among mutations that alter mRNA splicing of either the factor VIII or factor IX genes. We analyzed splicing mutations in both genes for changes in individual information (Ri, in bits) involving both donor or acceptor sites. Mutations with low or negative Ri values (<2.4 bits) or significant changes in Ri (ΔRi ≥ 7 bits) exhibited either reduced protein activity, increased clotting time and bleeding frequency and were predictive of severe disease. Thus, information analysis of splicing mutations may be useful in predicting phenotypes in hemophilia.

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