Small amplicons high resolution melting analysis (SA-HRMA) allows successful genotyping of acid phosphatase 1 (ACP1) polymorphisms in the Italian population.
Clin Chim Acta
; 416: 86-91, 2013 Feb 01.
Article
en En
| MEDLINE
| ID: mdl-23201490
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
/
Fosfatasa Ácida
/
Técnicas de Amplificación de Ácido Nucleico
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Humans
País/Región como asunto:
Europa
Idioma:
En
Revista:
Clin Chim Acta
Año:
2013
Tipo del documento:
Article
País de afiliación:
Italia