Molecular characterization of β-thalassemia genes in an Argentine population
1997; Wiley; Volume: 54; Issue: 3 Linguagem: Inglês
10.1002/(sici)1096-8652(199703)54
ISSN1096-8652
AutoresAriel Roldán, Marina Gutiérrez, Ana M. Cygler, Mariana Bonduel, Gabriela Sciuccati, Aurora Feliú Torres,
Tópico(s)Cystic Fibrosis Research Advances
ResumoThis study was designed to identity the β-thalassemia mutations in an Argentine population. Seventy-one pediatric patients and 101 available relatives were studied (85 chromosomes). Diagnosis of β-thalassemia was made by conventional hematological procedures. Molecular studies were carried out by dot-blot and restriction endonuclease analysis on amplified DNA to detect the eight most frequent mutations in the Mediterranean area. We were able to identify 95.3% of the β-thalassemia mutations in the subjects under study. The four common defects (C-39, 47%; IVS-I nt 110, 22.4%; IVS-I nt 1, 9.4%; and IVS-I nt 6, 5.9%) account for 84.7% of the β-thalassemia alleles. The alleles and their distributions showed a close similarity to the spectrum of alleles in Italy. The differences might represent the influence of other immigrations, especially from Spain. We conclude that β-thalassemia in Argentina originated mainly from Italian immigrants. This study will enable us to design an adequate approach to genetic counseling and/or prenatal diagnosis for couples at risk. Am. J. Hematol. 54:179–182, 1997 © 1997 Wiley-Liss, Inc.
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