Molecular characterization of β-thalassemia mutations in Egypt

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 ac...

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Bibliographic Details
Published in:Human genetics 1990-08, Vol.85 (3), p.272-274
Main Authors: NOVELLETTO, A, HAFEZ, M, SITTIEN, A, TERRENATO, L, DEIDDA, G, DI RIENZO, A, FELICETTI, L, EL-TAHAN, H, EL MORSI, Z, ZL-ZINY, M, AL-TONBARY, Y
Format: Article
Language:English
Subjects:
Anemias. Hemoglobinopathies
Biological and medical sciences
Diseases of red blood cells
Egypt
Genetic Linkage
Globins - genetics
Haplotypes
Hematologic and hematopoietic diseases
Humans
Medical sciences
Mutation
Nucleic Acid Hybridization
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Prenatal Diagnosis
Thalassemia - genetics
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00206744