Table of Contents
ISRN Genetics
Volume 2013 (2013), Article ID 204560, 10 pages
Research Article

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

1PharmaNess S.c.a r.l., Parco Scientifico e Tecnologico della Sardegna, Ed. 5, Loc. Piscinamanna, 09010 Pula, Italy
2Unità Operativa di Cagliari, Istituto di Farmacologia Traslazionale del Consiglio Nazionale delle Ricerche CNR-IFT, Parco Scientifico e Tecnologico della Sardegna, Ed. 5, Loc. Piscinamanna, 09010 Pula, Italy
3Dipartimento di Scienze della Vita e dell’Ambiente, Università degli Studi di Cagliari, Laboratori di Genetica, Via T. Fiorelli 1, 09126 Cagliari, Italy

Received 5 July 2012; Accepted 22 August 2012

Academic Editors: M. A. Chiurillo, G. Giovambattista, and K. Omi

Copyright © 2013 Matteo Falzoi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The CYP2D6 enzyme is involved in the metabolism of many commonly prescribed drugs. The presence of polymorphisms in the CYP2D6 gene may modulate the enzyme level and activity affecting individual responses, to pharmacological treatment in drug level, response and adverse reactions. Aims. This study aimed to analyze the determination of allele frequencies in Sardinians and the comparison to frequencies found in the Caucasian Population. Methods and Materials. We used a Long PCR strategy coupled to direct genomic DNA sequencing analysis. An amplification allele-specific was carried out to infer the correct allelic phase. The TaqMan Gene Copy Number Assay (Applied Biosystems) was used to verify the presence of gene deletions/multiplications. Results and Conclusions. Our results indicated that CYP2D6 allele frequencies in Sardinians differed from those previously detected in the Caucasian Population. Moreover, three new SNPs and four novel haplotypes were identified.