IFCC PROFESSIONAL SCIENTIFIC EXCHANGE PROGRAMME (PSEP) REPORT: CYP1A2 AND CYP3A4 GENE POLYMORPHISMS

Differences in DNA sequences occur naturally in a population. A point in the human genome that can exist as two different versions (alleles) is known as polymorphism. Single nucleotide substitutions, insertions and deletions of nucleotides and repetitive sequences (microsatellites) are all examples of polymorphisms. There are upwards of 1,000,000 such SNPs (Single Nucleotide Polymorphisms) in the genome and they are responsible for the unique characteristics of every individual, from hair colour to disease predisposition.Numerous SNPs have been described in CYPs isoenzymes. For instance, within CYP2D6 we can find CYP2D6*1B (3828G>A) (1) or CYP2D6*3A (2549A>del) (2).