Summary
A close association between specific restriction fragment polymorphism patterns and specific mutations in Mediterranean people with thalassemia has been demonstrated by Kazazian et al. (1984). This finding is useful to characterize the number and types of mutations in each ethnic group for setting up prenatal diagnosis in the first trimester of pregnancy by the oligonucleotide technique. For this reason we studied 99 βthal and 46 βA chromosomes in the Sicilian population. We found seven different cleavage patterns, not considering two new haplotypes so far uncharacterized. Many of the patients (68.3%) were genetic compounds for different haplotypes while only 31.7% were haplotype homozygotes. They may still be thalassemia compound heterozygotes. These findings confirm the molecular basis of the heterogeneity of β thalassemia in Sicily.
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References
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
Orkin SH, Kazazian HH, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV (1982) Linkage of β thalassemia mutations and β globin gene polymorphisms with DNA polymorphisms in human β globin gene cluster. Nature 15:627–631
Orkin SH, Markham AF, Kazazian HH (1983) Direct detection of the common Mediterranean β-thalassemia gene with synthetic DNA probes. J Clin Invest 71:775–779
Pirrone A, Maggio A, Gambino R, Hauser D, Acuto S, Romano V, Butticè G, Caronia F (1982) Genetic heterogeneity of β thalassemia in Western Sicily. Haematologica (Pavia) 67:825–836
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–506
Taylor JM, Dozy AM, Kan YW, Varmus HE, Lie-Injo LE, Ganesan J, Todd D (1974) Genetic lesion in homozygous α-thalassemia (hydrops fetalis). Nature 251:392–396
Thein SL, Wainscoat JS, Lynch JR, Weatherall DJ, Sampietro M, Fiorelli G (1985) Direct detection of β0-39 thalassemic mutation with Mae I. Lancet I:1095–1098
Wallace RB, Schold M, Johnson MJ, Dembek P, Itakura K (1981) Oligonucleotide directed mutagenesis of the human β-globin gene: a general method for producing specific point mutations in cloned DNA. Nucleic Acids Res 9:3647–3651
Weatherall DI, Clegg JB (1981) Thalassemia syndromes, 3rd edn. Blackwell, Oxford
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Maggio, A., Acuto, S., Lo Gioco, P. et al. βA and βthal DNA haplotypes in Sicily. Hum Genet 72, 229–230 (1986). https://doi.org/10.1007/BF00291883
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DOI: https://doi.org/10.1007/BF00291883