[Molecular genetics of the thalassemias in Argentina].
OBJECTIVE
Was to establish the molecular genetics of thalassemias in Argentina.


METHODS
Genomic DNA was amplified by PCR and six point mutations in the beta-globin gene were investigated by Dot Blot hybridization using oligonucleotide probes. The most frequent alpha-thalassemia deletions were studied by Southern Blotting. Patients were distributed in 4 groups: a) 109 beta-thalassemic carriers; b) 15 thalassemia major patients; c) 2 thalassemia intermedia patients and d) 14 probable alpha-thalassemic carriers.


RESULTS
The distribution of mutated alleles in the group a) was: IVS-1 nt 1: 13.76%, IVS-1 nt 6: 7.34%, IVS-1 nt 110: 23.85%, codon 39: 39.45%, IVS-2 nt 1: 3.68% e IVS-2 nt 745: 1.83%, 10.01% could not be determined with the probes used; in the group b) the allelic distribution was similar and the compound genetic genotype were predominant related to homocygous ones; in the group c): we confirmed the presence of one beta-thalassemia mutation and a alpha gene triplication (alpha alpha alpha) in the 2 patients studied. The alpha-thalassemia character was confirmed in 8 patients of the group d) (6 had -alpha 3,7/alpha alpha genotype and 2,-alpha 3,7/-alpha 3,7 genotype).


CONCLUSIONS
This study indicates that the analysis of 6 mutations in the beta-globin gene and the alpha-globin gene deletions are an effective strategy to identify thalassemias in Argentina.
Varela
V
V
Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina.
Rossetti
L C
LC
Binaghi
A
A
Targovnik
H M
HM
Abreu
M S
MS
D000483:Alleles; D001118:Argentina / Q000453:epidemiology; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D013789:Thalassemia / Q000453:epidemiology / Q000235:genetics*
D003062:Codon; D005914:Globins