International Scholarly Research Notices / 2013 / Article / Tab 5

Research Article

Genotyping of CYP2D6 Polymorphisms by MALDI-TOF Mass Spectrometry in Sardinian People

Table 5

CYP2D6 allele frequencies in 250 healthy Sardinian people. Total chromosomes number = 500. Human cytochrome P450 Allele Nomenclature Committee [7] served as reference for variant allele and correlated enzymatic activity.

Variant alleleNumber of chromosomesFrequency (%)Correlated enzymatic activity

 *1A EM
* 1B EM
* 1D EM
* 1E EM
* 2A EM
* 2B EM
* 2D EM
* 2E EM
* 2F EM
* 2G EM
* 2K EM
* 2L EM
* 2M EM
SH3 Not known
SH4 Not known
* 3A PM
* 3B PM
* 4A PM
* 4B PM
* 4D PM
* 4K PM
* 4L PM
* 4M PM
* 4N PM
* 5 PM
* 6A PM
* 6C PM
* 6D PM
* 7 PM
* 8 PM
* 9 IM
* 10A IM
* 10B IM
* 11 PM
* 12 PM
* 14A PM
* 14B IM
* 15 PM
* 17 IM
* 19 PM
* 20 PM
* 22 Not known
* 23 Not known
* 24 Not known
* 25 Not known
* 26 Not known
* 27 EM
* 28 Not known
* 29 IM
* 30 Not known
* 31 PM
* 32 Not known
* 33 EM
* 35A EM
* 36 IM
* 37 Not known
* 38 PM
* 39 EM
* 41 IM
SH1 Not known
SH2 Not known
* 43 Not known
* 58 Not known
* 59 IM
* 64 Not known
* 65 Not known
* 1xN UM
* 2xN UM

SH1,2,3,4 = Sardinian haplotype 1,2,3,4 [5, 2225]. CYP2D6*5,*1xN; and *2xN alleles were evaluated by The CYP2D6 Applied Biosystems CNV Assay in [5].

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