%0 Journal Article
%T Estudio de las mutaciones CD39 e IVS1-110 causantes de ¦Â-talasemia mediante ARMS-PCR.
%A Acosta
%A Karina B
%A Riera
%A Mario A
%A Labandera
%A Nadia
%A Zapata
%A Pedro D
%A Galeano
%A Zulema
%J Revista de ciencia y tecnolog£¿-a
%D 2010
%I Scientific Electronic Library Online
%X ¦Â-thalassemias derive from a decrease in the synthesis of ¦Â-globin chains, being caused by different mutations in the ¦Â-globin gene. the molecular detection of these mutations allows the ¦Â-thalassemic genotype determination and therefore, a precise diagnosis 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 ¦Â-globin gene, by the arms-pcr technique. in 50 patients analyzed, three were positive for the cd39 mutation, corresponding to 6 % of the cases, while no patients with the ivs1-110 mutation were detected. this study provides new data on the frequency of genotypes (¦Â/¦Âcd39 and p / ¦Âivs1-110) responsible for ¦Â-thalassemia heterozygote in our region.
%K ¦Â-thalassemias
%K mutations
%K genotype
%K diagnosis
%K arms-pcr.
%U http://www.scielo.org.ar/scielo.php?script=sci_abstract&pid=S1851-75872010000200006&lng=en&nrm=iso&tlng=en