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

Haemophilia : the Official Journal of the World Federation of Hemophilia
Y von KodolitschPeter K Rogan

Abstract

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 (R(i), in bits) involving both donor or acceptor sites. Mutations with low or negative R(i) values (<2.4 bits) or significant changes in R(i) (DeltaR(i) > or = 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.

References

Jan 1, 1980·American Journal of Hematology·M E EysterA Keller
Oct 1, 1993·European Journal of Haematology·M CarlssonK Lindvall
Mar 1, 1997·Trends in Genetics : TIG·M Krawczak, D N Cooper
Feb 6, 1998·Human Mutation·D DavidG de Deus
Aug 26, 1998·Human Mutation·P K RoganT D Schneider
Aug 5, 2000·Seminars in Thrombosis and Hemostasis·S S Fakharzadeh, H H Kazazian
Mar 22, 2001·British Journal of Haematology·H M van den BergH K Nieuwenhuis
Oct 26, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Anne MaddalenaUNKNOWN ACMG Laboratory Quality Assurance Committee

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