title: Small amplicons high resolution melting analysis (SA-HRMA) allows successful genotyping of acid phosphatase 1 (ACP1) polymorphisms in the Italian population.
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.
authors.affiliation: Laboratory of Clinical Molecular Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Italy. angelo.minucci@virgilio.it
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.forename: Giulia
authors.initials: G
authors.lastname: Canu
authors.forename: Leonarda
authors.initials: L
authors.lastname: Gentile
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Bruno
authors.initials: B
authors.lastname: Giardina
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D000135:Acid Phosphatase / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000191:economics / Q000592:standards; D005838:Genotype; D006801:Humans; D007558:Italy; D008969:Molecular Sequence Data; D021141:Nucleic Acid Amplification Techniques / Q000191:economics / Q000592:standards*; D011110:Polymorphism, Genetic; D015203:Reproducibility of Results; D013997:Time Factors
chemical_list: D000135:Acid Phosphatase