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.
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Amselem S, Nunes V, Vidaud M, Estivill X, Wong C, d'Auriol L, Vidaud D, Galibert F, Baiget M, Goossens M (1988) Determination of the spectrum of β-thalassemia genes in Spain by use of dot-blot analysis of amplified β-globin DNA. Am J Hum Genet 43:95–100
Boehm CD, Dowling CD, Waber PG, Giardina PJV, Kazazian HH Jr (1986) Use of oligonucleotide hybridization in the characterization of β∘ thalassemia gene (β37 TGG-TGA) in a Saudi Arabian family. Blood 67:1187–1189
Chebab FF, Der Kaloustian V, Khouri FP, Deeb SS, Kan YW (1987) The molecular basis of β-thalassemia in Lebanon: application to prenatal diagnosis. Blood 69:1141–1145
Chibani J, Vidaud M, Duquesnoy P, Bergé-Lefranc JL, Pirastu M, Elleouze F, Rosa J, Goossens M (1988) The peculiar spectrum of β-thalassemia genes in Tunisia. Hum Genet 78:190–192
Diaz-Chico JC, Yang KG, Stoming TA, Efremov DG, Kutlar A, Kutlar F, Aksoy M, Altay C, Gurgey A, Kilinc Y, Huisman THJ (1988) Mild and severe β-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes. Blood 71:248–251
Di Rienzo A, Felicetti L, Novelletto A, Forteleoni G, Colombo B (1985) Frequency and types of α+ thalassemia in northern Sardinia. Hum Genet 71:147–149
Habib Z, Book JA (1982) Thalassemia in the Egyptian population. Hereditas 95:149–158
Hafez M, El-Tahan H, Awadalla M, El-Khayat H, Abdel-Gafar A, Ghoneim M (1983) Consanguineous matings in the Egyptian population. J Med Genet 20:58–60
Kazazian HH, Orkin SH, Markham AF, Chapman CR, Youssoufian H, Waber PG (1984) Quantification of the close association between DNA haplotypes and specific β-thalassemia mutations in Mediterraneans. Nature 310:152–154
Li CC (1976) First course in population genetics. Boxwood Press, Pacific Grove
Novelletto A, Hafez M, Di Rienzo A, Felicetti L, Deidda G, El Morsi Z, Al-Tonbary Y, El-Ziny M, Abd-El-Gelil N, Terrenato L (1989) Frequency and molecular types of deletional α-thalassemia in Egypt. Hum Genet 81:211–213
Orkin SH, Kazazian HH, Antonarakis SE, Goff S, Boehm CD, Sexton JP, Waber P, Giardina PJV (1982) Linkage of β-thalassemia mutations and β-globin gene polymorphisms in human β-globin gene cluster. Nature 296:627–631
Sozuoz A, Berkolp A, Figus A, Loi A, Pirastu M, Cao A (1988) β-Thalassemia mutations in Turkish Cypriots. J Med Genet 25:766–768
Wainscoat JS, Thein SL, Old JM, Weatherall DJ (1984) A new DNA polymorphism for prenatal diagnosis of β-thalassemia in Mediterranean populations. Lancet II:299–1301
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Novelletto, A., Hafez, M., Deidda, G. et al. Molecular characterization of β-thalassemia mutations in Egypt. Hum Genet 85, 272–274 (1990). https://doi.org/10.1007/BF00206744
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DOI: https://doi.org/10.1007/BF00206744