title: Molecular characterization of beta-thalassemia mutations in Egypt.
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.
authors.affiliation: Dipartimento di Biologia, Università Tor Vergata, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Novelletto
authors.forename: M
authors.initials: M
authors.lastname: Hafez
authors.forename: G
authors.initials: G
authors.lastname: Deidda
authors.forename: A
authors.initials: A
authors.lastname: Di Rienzo
authors.forename: L
authors.initials: L
authors.lastname: Felicetti
authors.forename: H
authors.initials: H
authors.lastname: el-Tahan
authors.forename: Z
authors.initials: Z
authors.lastname: el Morsi
authors.forename: M
authors.initials: M
authors.lastname: el-Ziny
authors.forename: Y
authors.initials: Y
authors.lastname: al-Tonbary
authors.forename: A
authors.initials: A
authors.lastname: Sittien
mesh_terms: D004534:Egypt; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins