Article
Molecular characterization of beta-thalassemia mutations in Egypt.
Human genetics - 1 Aug 1990
Novelletto A, Hafez M, Deidda G, Di Rienzo A, Felicetti L, el-Tahan H, el Morsi Z, el-Ziny M, al-Tonbary Y, Sittien A
Abstract excerpt
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...
Topics
- Egypt
- Genetic Linkage
- Globins
- Haplotypes
- Humans
- Mutation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Prenatal Diagnosis
- Thalassemia