Estudio de las mutaciones CD39 e IVS1-110 causantes de β-talasemia mediante ARMS-PCR

ACOSTA, KARINA BEATRIZ; RIERA, MARIO ALEJANDRO; LABANDERA, NADIA; ZAPATA, PEDRO DARÍO; GALEANO, ZULEMA

REVISTA DE CIENCIA Y TECNOLOGIA

CENTRO DE INVESTIGACIÓN Y DESARROLLO TECNOLÓGICO, FACULTAD DE CIENCIAS EXACTAS, QUÍMICAS Y NATURALES, UNIVERSIDAD NACIONAL DE MISIONES

Año: 2010 vol. 12 p. 29 - 34

β-thalassemias are due to a decrease in the synthesis of β-globin chains, and are caused by different mutations in the β-globin gene. The molecular detection of these mutations, allows the β-thalassemic genotype determination and therefore a precise diagnosis establishment and the underlying treatment. The aim of this study was to study the two most common finding mutations in the Argentinean population, CD39 and IVS1-110 mutations in the β-globin gene, by the ARMS-PCR technique. In 50 analyzing patients 3 were positive for the CD39 mutation, corresponding to 6% of cases, while no patients with the IVS1-110 mutation were detected. This study provides new data on the frequency of genotypes (β/βCD39 and β / βIVS1-110) responsible for β-thalassemia heterozygous in our region.