Laboratorio de análisis Echevarne

Pharmacogenetics

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)

Consult your results