Analysis of Genetic Disease Hemophilia B by Using Support Vector Machine

Abstract

Hemophilia B is a genetic disease resulting from deficiency of factor IX. The database of mutations causing hemophilia B has been developed by the world wide collaboration. Most common mutations are amino acid changing substitutions, which we call missense mutations, and factor IX activity is closely related to the type and position of a substitution. In this study, we examined the relation between clotting level of factor IX and the type of a missense mutation by using Support Vector Machine (SVM). As parameters, we used four physical-chemical parameters of amino acids and a special flag variable representing amino acid cysteine. As a result, EGF(1st) and EGF(2nd) have the relationship in the prediction of serious or slight illness in hemophilia B. Cysteine substitution parameters influence the prediction in Activation region.