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Mis-sense mutation Non-sense mutation Large deletion Consensus splice sites mutation

Functional genomics and pre mRNA processing alterations. Identification of possible disease causing mutations by systematic genomic sequencing of candidate genes. Polymorphisms, atypical and “orphan” mutations. Clear possible functional alteration. Splicing defects. Mis-sense mutation

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Mis-sense mutation Non-sense mutation Large deletion Consensus splice sites mutation

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  1. Functional genomics and pre mRNA processing alterations Identification of possible disease causing mutations by systematic genomic sequencing of candidate genes Polymorphisms, atypical and “orphan” mutations Clear possible functional alteration Splicing defects Mis-sense mutation Non-sense mutation Large deletion Consensus splice sites mutation Promoter defects Functional splicing assay

  2. polyA tail promoter Can you make the drawings as linear constructs? Fibronectin- Globin hybrid minigene polyA tail promoter SXN13 hybrid minigene polyA tail promoter Sal I BamH1

  3. Analysis of pre mRNA processing alterations Clinical evaluation Identification of candidate genes by clinical diagnosis Identification of possible disease causing mutations by systematic genomic sequencing of candidate genes Bioinformatic analysis Polymorphisms, atypical and “orphan” mutations Clear possible functional alteration Mis-sense mutation Non-sense mutation Large deletion Consensus splice sites mutation Promoter defects Identification of mutations as possible Splicing defects RNA expression analysis Functional splicing assay (reporter genes) Experimental validation Verification that mutations act on splicing Identification of trans-acting factors Determination of disease causing mechanism Development of rational therapy approaches, evidence based genetic conseling

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