Genotyping of CYP2D6 Polymorphisms by MALDI-TOF Mass Spectrometry in Sardinian People. (12th May 2013)

• Record Type: Journal Article
• Authors: Falzoi, Matteo; Pira, Luigi; Lazzari, Paolo; Pani, Luca
• Other Names: Chen B. Academic Editor.; Chiurillo M. A. Academic Editor.; Giovambattista G. Academic Editor.; Yamamoto A. Academic Editor.
• Is Part Of: ISRN genetics. Volume 2013(2013)
• Publication Date: 2013-05-12
• Subjects: Genetics -- Periodicals; Genetics, Medical; Genetics; Periodicals; Periodicals; Fulltext; Internet Resources; Periodicals; Electronic journals; 576.5
• DOI: 10.5402/2013/609797
• Languages: English
• ISSNs: 2090-8687

Abstract

Abstract : 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.