Pharmacogenetics
In therapeutic activity against a disease, the doctor’s initial observation is the interindividual variability of the response, which is intrinsically linked to the genetic characteristics of the subject and modulated by physiological, pathological and environmental factors.
Pharmacogenetics is the science that allows the genetic basis of interindividual differences in the response to drugs to be identified. In this sense, pharmacogenetics provides at least one way to make medical prescriptions without the usual empiricism and move towards more personalised therapy.
Fields of action
Cytochrome p450 complex
• CYP2D6
• CYP2C19
• CYP3A5
Antidementia drugs
• APOE
Oestrogen replacement therapy
• COMT
SNPs at the level of the
Beta-Adrenergic receptor
• Arg16Gly: Response to anti-asthma treatment
• Gln27Glu: Obesity
Tyrosine kinase inhibitors
• bcr/abl: Response to Imatinib
Acetylation
• NAT2
Hyperhomocysteinemia treatment
• MTFHR
• CBS
• MS
Tyrosine kinase inhibitors
• bcr/abl: Respuesta al Imatinib
Analytical techniques
• Gene amplification by PCR: qualitative and quantitative
• RFLP (Restriction Fragment Polymorphism)
• SSCP (Simple Chain Polymorphism)
• DNA sequencing
• Cell cultures
• Nucleic acid hybridisation:
- Northern blot (RNA)
- Southern blot (DNA)
