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Predicting severity of haemophilia A and B splicing mutations by information analysis
Author(s) -
KODOLITSCH Y.,
BERGER J.,
ROGAN P. K.
Publication year - 2006
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2006.01216.x
Subject(s) - rna splicing , haemophilia , clotting factor , gene , medicine , mutation , haemophilia b , haemophilia a , phenotype , splicing factor , genetics , alternative splicing , messenger rna , biology , rna , pediatrics
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 ( 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 (Δ R i ≥ 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.