Molecular characterization of beta-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 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.
Novelletto
A
A
Dipartimento di Biologia, Università Tor Vergata, Rome, Italy.
Hafez
M
M
Deidda
G
G
Di Rienzo
A
A
Felicetti
L
L
el-Tahan
H
H
el Morsi
Z
Z
el-Ziny
M
M
al-Tonbary
Y
Y
Sittien
A
A
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*
D005914:Globins