caa a22 4500 467985022 CHVBK 20180323112529.0 cr unu---uuuuu 170328e19900801xx s 000 0 eng 10.1007/BF00206744 doi (NATIONALLICENCE)springer-10.1007/BF00206744 Molecular characterization of β-thalassemia mutations in Egypt [Elektronische Daten] [A. Novelletto, M. Hafez, G. Deidda, A. Di Rienzo, L. Felicetti, H. El-Tahan, Z. El Morsi, M. El-Ziny, Y. Al-Tonbary, A. Sittien, L. Terrenato] Summary: The relative frequency of different β-thalassemia mutations and their association with β-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 β-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. Springer-Verlag, 1990 Novelletto A. Dipartimento di Biologia, Università Tor Vergata, I-00173, Rome, Italy aut Hafez M. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut Deidda G. Istituto di Biologia Cellulare, CNR, I-00137, Rome, Italy aut Di Rienzo A. Istituto di Biologia Cellulare, CNR, I-00137, Rome, Italy aut Felicetti L. Istituto di Biologia Cellulare, CNR, I-00137, Rome, Italy aut El-Tahan H. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut El Morsi Z. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut El-Ziny M. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut Al-Tonbary Y. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut Sittien A. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut Terrenato L. Dipartimento di Biologia, Università Tor Vergata, I-00173, Rome, Italy aut Human Genetics Springer-Verlag 85/3(1990-08-01), 272-274 0340-6717 85:3<272 1990 85 439 https://doi.org/10.1007/BF00206744 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00206744 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Novelletto A. Dipartimento di Biologia, Università Tor Vergata, I-00173, Rome, Italy aut NATIONALLICENCE 700 1- Hafez M. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut NATIONALLICENCE 700 1- Deidda G. Istituto di Biologia Cellulare, CNR, I-00137, Rome, Italy aut NATIONALLICENCE 700 1- Di Rienzo A. Istituto di Biologia Cellulare, CNR, I-00137, Rome, Italy aut NATIONALLICENCE 700 1- Felicetti L. Istituto di Biologia Cellulare, CNR, I-00137, Rome, Italy aut NATIONALLICENCE 700 1- El-Tahan H. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut NATIONALLICENCE 700 1- El Morsi Z. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut NATIONALLICENCE 700 1- El-Ziny M. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut NATIONALLICENCE 700 1- Al-Tonbary Y. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut NATIONALLICENCE 700 1- Sittien A. Pediatric Genetics Unit, Pediatric Department, Faculty of Medicine, University of El-Mansoura, Egypt aut NATIONALLICENCE 700 1- Terrenato L. Dipartimento di Biologia, Università Tor Vergata, I-00173, Rome, Italy aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/3(1990-08-01), 272-274 0340-6717 85:3<272 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer