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 allele
Number of chromosomes
Frequency (%)
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, 22–25]. CYP2D6*5,*1xN; and *2xN alleles were evaluated by The CYP2D6 Applied Biosystems CNV Assay in [5].
