Pharmacogenetics

In therapeutic action against a disease, the first thing observed by a doctor is the inter-individual variability of the response, which is intrinsically linked to the genetic characteristics of the subject, modulated by physiological, pathological and environmental factors.

Pharmaco-genetics is the science that makes it possible to identify the genetic basis of inter-individual differences in response to drugs.The development of pharmaco-genetics provide a way of making medical prescriptions without the current empiricism in order to get a more customized therapy. 

ANALYTICAL TECHNIQUES:

  • Gene amplification by PCR: qualitative and quantitative
  • RFLP (Restriction Fragment Length Polymorphism)
  • SSCP (Single Strand Conformational Polymorphism)
  • DNA sequencing
  • Cell cultures
  • Nucleic acid hybridisation:

Northern blot (RNA)
Southern blot (DNA)


FIELDS OF ACTION
Cytochrome p450 complex:

  • CYP2D6
  • CYP2C19
  • CYP3A5

Acetylation:

  • NAT2

Anti-dementia drugs:

  • APOE

Anti-hypertension drugs:

  • ACE

Replacement oestrogen therapy:

  • COMT

Hyperhomocystinemia treatment:

  • MTFHR
  • CBS
  • MS

SNPs at Beta-Adrenergic receptor level:

  • Arg16Gly: Response to anti-asthma treatment
  • Gln27Glu: Obesity

Tyrosine-kinase inhibitors:

  • bcr/abl: Response to Imatinib