, 5.3.1.2 Amplichip CYP450 test ................................................................................................................ 46
5.3.1.3 CYP3A4 polymorphism ................................................................................................................ 46
5.3.1.4 Aldehyde dehydrogenase ........................................................................................................... 47
5.3.2 Acetylation: N-acetylation polymorphism NAT-2 ................................................................................ 47
5.3.3 Methylation: Thiopurine S-Methyltransferase .................................................................................... 47
5.4 Genetic differences in drug target ........................................................................................................... 48
5.4.1 Human growth hormone ..................................................................................................................... 48
5.4.2 β1-adrenerg receptor: sensitivity for β-blocking agents ..................................................................... 48
5.4.3 Warfarin ............................................................................................................................................... 48
5.5 Differentiation between subtypes of a disease ....................................................................................... 49
5.5.1 ERBB2 and herceptin ........................................................................................................................... 49
5.6 Preclinical drug development .................................................................................................................. 49
5.7 Expectations from pharmacogenetics ..................................................................................................... 51
5.7.1 Implementation in clinical practice ..................................................................................................... 51
5.7.1.1 Pilot projects for implementation ............................................................................................... 51
5.7.1.2 Interaction genome-diet ............................................................................................................. 51
6.1 Variation in the human genome .............................................................................................................. 52
6.2 Do we know other types of genomic variation? ...................................................................................... 52
6.2.1 Syndromes ........................................................................................................................................... 52
6.2.2 Fluorescent in situ hybridisation (FISH) ............................................................................................... 52
6.2.3 Principle of Array-CGH ......................................................................................................................... 52
6.3 Copy number variation ............................................................................................................................ 53
6.3.1 CNV is a subtype of Structural Variation ............................................................................................. 53
6.3.2 Mechanisms of rearrangements .......................................................................................................... 54
6.3.3 SNP array ............................................................................................................................................. 54
6.3.4 Examples .............................................................................................................................................. 55
6.3.4.1 The Williams-Beuren syndrome .................................................................................................. 55
6.3.4.2 17q21.31 microdeletion syndrome ............................................................................................. 55
7.1 Introduction ............................................................................................................................................. 56
7.2 Identifying novel, as yet unknown genetic disorders .............................................................................. 56
7.2.1 Trio approach....................................................................................................................................... 56
7.3 Would you not like to screen a large set of patients? ............................................................................. 57
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