Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.

摘要: Summary Mutation screenings in haemophilia A (HA) patients identified a great variety of mutations the factor VIII gene (F8): intron 22 or 1 inversions, missense mutations, nonsense small large deletions, insertions, duplications and splice site mutations. Mutations which do not result amino acid substitutions (silent mutations) intronic variants located outside consensus sequences cannot be easily classified as causative for HA. In these cases, special prediction software algorithms are applied to estimate their impact on splicing. Here, we present mRNA analysis novel F8 with possible splicing four HA silent seven close within sequences. Seven eleven examined vitro could shown have an effect results were compared silico predictions. addition, validate Alamut v2.0 (Interactive Biosoftware), published analyses prediction. general, tools good accordance experimental analyses, but fundamental discrepancy between was obtained some cases. conclusion, this study shows that functional classification potential should only rely software, rather based experiments.