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Molecular characterization of β-thalassemia mutations in Egypt

✍ Scribed by A. Novelletto; M. Hafez; G. Deidda; A. Rienzo; L. Felicetti; H. El-Tahan; Z. Morsi; M. El-Ziny; Y. Al-Tonbary; A. Sittien; L. Terrenato

Publisher
Springer
Year
1990
Tongue
English
Weight
321 KB
Volume
85
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

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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