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

Figure 1

Electropherograms detecting the presence of three novel SNPs. (a) −948C/A; (b) 3176C/T; (c) 3948T/G. The three samples presenting novel SNPs in heterozygous status were submitted to CYP2D6 Single Allele Analysis to infer the correct phase.(d) −948A; (g) −948C; (e) 3176C; (h) 3176T; (f) 3948G; (i) 3948T. −948C>A and 3176C>T SNPs, found in two samples, were associated in the same haplotype that could be considered as a hybrid between CYP2D6*2 M and *41 alleles (“Sardinian haplotype 2,” SH2). 3948T>G SNP, found in one sample, was associated to a modification of CYP2D6*2 M allele (“Sardinian haplotype 4”, SH4).

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