Small Amplicons High Resolution Melting Analysis (SA-HRMA) allows successful genotyping of acid phosphatase 1 (ACP1) polymorphisms in the Italian population

Angelo Minucci, Giulia Canu, Cecilia Zuppi, Bruno Giardina, Ettore Domenico Capoluongo

Risultato della ricerca: Contributo in rivistaArticolo in rivista

3 Citazioni (Scopus)

Abstract

Background: The ACP1 gene, encoding a low-molecular-weight phosphotyrosine phosphatase (LMW-PTP), has been suggested as a common genetic factor of several human diseases, including inflammatory and autoimmune diseases, favism and tumors. For this reason, the ACP1 enzyme has been investigated by case-control studies for decades. Initially based on protein electrophoresis, the ACP1 phenotype is now determined by DNA-based techniques. Methods: Here, we report a rapid optimized method which employs HRMA for ACP1 polymorphism identification, a molecular approach that we used to screen 80 healthy Italian subjects. Results: HRMA proved particularly suitable for detecting ACP1 genotypes. In fact, HRMA results were 100\% concordant with direct sequencing. In addition, ACP1 genotype frequency in the Italian population was in accordance with the literature {[4\% (*A/A), 36\% (*A/B), 4\% (*A/C), 50\% (*B/B), 6\% (*B/C)]. Conclusions: HRMA was found to be a simple, rapid, sensitive and low cost method potentially useful in research and diagnostic laboratories. Finally, use of small amplicons for the set-up allowed us a better optimization of HRMA. For this reason, we present such an approach as small amplicons high resolution melting analysis (SA-HRMA). Finally, ACP1 genotype frequency in the Italian population reported in this study may contribute to a better interpretation of ACP1 allelic frequency variation. (c) 2012 Elsevier B.V. All rights reserved.}
Lingua originaleEnglish
pagine (da-a)86-91
Numero di pagine6
RivistaClinica Chimica Acta
Volume416
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • GENETIC-POLYMORPHISM
  • PROTEIN-TYROSINE-PHOSPHATASE

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