Molecular characterization of beta-thalassemia mutations in Egypt.
Hum Genet
; 85(3): 272-4, 1990 Aug.
Article
em En
| MEDLINE
| ID: mdl-1975554
ABSTRACT
The relative frequency of different beta-thalassemia mutations and their association with beta-globin haplotypes were studied in patients from the Nile delta region, Egypt, by means of the polymerase chain reaction, oligonucleotide hybridization and restriction analysis. We found that 8 mutations account for 77% of beta-thalassemia chromosomes in this population, the commonest being IVS-1 nt 110, IVS-1 nt 6 and IVS-1 nt 1. Each mutation was associated with a specific haplotype, with the exception of IVS-1 nt 110, found on 3 different chromosomal backgrounds. Our data show that testing for the 8 detectable mutations makes feasible prenatal diagnosis in 65% of at risk couples and exclusion testing in an additional 25% of cases.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia
/
Globinas
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
1990
Tipo de documento:
Article