Research Article

Analysis of CYP2D6 Allele Frequencies and Identification of Novel SNPs and Sequence Variations in Sardinians

Table 7

CYP2D6 genotype frequencies in 250 healthy Sardinian people. In these results, “Sardinian haplotypes 1 and 2” are considered as part of CYP2D6*41 allele, instead “Sardinian haplotypes 3 and 4” are considered as part of CYP2D6*2 allele.

GenotypeObserved frequency (%)Predicted frequency (%)Predicted enzymatic activity [5]

* 1/ * 1 9.69.9EM
* 1/ * 2 13.212.9EM
* 1/ * 3 1.61.7IM
* 1/ * 4 10.010.7IM
* 1/ * 5 0.80.6IM
* 1/ * 6 0.40.2IM
* 1/ * 9 0.40.2IM
* 1/ * 10 3.23.5IM
* 1/ * 15 0.40.5IM
* 1/ * 20 0.40.2IM
* 1/ * 28 0.40.5EM/IM ª
* 1/ * 35 0.80.6EM
* 1/ * 41 10.410.9IM
* 1/ * 1 × N 0.80.6UM
* 1/ * 2 × N 0.80.6UM
* 2/ * 2 4.04.3EM
* 2/ * 3 0.81.1IM
* 2/ * 4 6.86.9IM
* 2/ * 5 0.40.5IM
* 2/ * 10 2.42.2IM
* 2/ * 28 0.40.5EM/IM ª
* 2/ * 35 0.40.5EM
* 2/ * 41 7.67.1IM
* 2/ * 1 × N 0.40.5UM
* 2/ * 2 × N 0.40.5UM
* 3/ * 4 0.80.9PM
* 3/ * 10 0.40.3IM
* 3/ * 41 0.80.3IM
* 4/ * 4 2.82.9PM
* 4/ * 5 0.40.3PM
* 4/ * 10 2.01.8IM
* 4/ * 15 0.40.3PM
* 4/ * 28 0.40.3IM/PM ª
* 4/ * 35 0.40.3IM
* 4/ * 41 6.05.8IM
* 4/ * 1 × N 0.40.3EM
* 4/ * 2 × N 0.40.3EM
* 5/ * 41 0.40.3IM
* 10/ * 10 0.40.3IM
* 10/ * 41 2.01.9IM
* 15/ * 41 0.40.2IM
* 28/ * 41 0.40.3IM/PM ª
* 35/ * 41 0.40.3IM
* 41/ * 41 3.23.0IM
* 41/ * 1 × N 0.40.3EM
* 41/ * 2 × N 0.40.3EM
Other1.6
test value

aCYP2D6* 28 enzymatic activity is not still described [5].