Table of Contents
ISRN Genetics
Volume 2013, Article ID 609797, 10 pages
Research Article

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

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

Received 7 March 2013; Accepted 4 April 2013

Academic Editors: B. Chen, M. A. Chiurillo, G. Giovambattista, and A. Yamamoto

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 CYP2D6 gene SNPs can alter CYP2D6 enzymatic activity with effects ranging considerably within a population. Objectives. In this study, we have developed a genotyping platform able to determine the alleles related to interindividual variability in the CYP2D6 gene. Design and Methods. We used a long PCR strategy coupled to MALDI-TOF mass spectrometry (Sequenom) to develop a SNPs genotyping method. Furthermore, an amplification allele specific was carried out to infer the correct allelic phase. Results. We tested the multiplex platform in 250 DNA Sardinian samples and found it to be 100% concordant with the sequencing results of our previous work. Conclusions. The MALDI-TOF-based multiplexing system allowed simultaneous and efficient genotyping of a set of CYP2D6 SNPs, evidencing its potential use in diagnostic test development to predict drug responses and clinical outcomes.