Summary
Thalassemia major is a rare disorder in the German population. We describe here the characterization of the β-globin genes of a German patient homozygous for β-thalassemia. Gene cloning and sequencing revealed a G to T transversion at the intron 1 donor site of the β-globin gene on both chromosomes.
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References
Akar N, Altay C, Dessi E, Loi A, Pirastu M, Cao A (1987) β-Thalassaemia mutations in the Turkish population. J Med Genet 24:378–381
Antonarakis SE, Boehm CD, Giarkina PJV, Kazazian HH Jr (1982) Nonrandom association of polymorphic restriction sites in the β-globin gene cluster. Proc Natl Acad Sci USA 79:137–141
Atweh GF, Wong C, Reed R, Antonarakis E, Zha D, Ghosh PK, Maniatis T, Forget BG, Kazazian HH Jr (1987) A new mutation in IVS-1 of the human β globin gene causing β thalassemia due to abnormal splicing. Blood 70:147–151
Conner BJ, Reyes AA, Morin C, Itakura K, Teplitz RL, Wallace RB (1983) Detection of sickle cell β-globin allele by hybridization with synthetic oligonucleotides. Proc Natl Acad Sci USA 80:278–282
Diaz-Chico JC, Yang KG, Stoming TA, Efremov DG, Kutlar A, Kutlar F, Aksoy M, Altay C, Gurgey A, Kilinc A, Huisman TJH (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
Flatz G, Hauke H, Kleihauer E (1964) Thalassemia major in Deutschland. Klin Wochenschr 42: 850–852
Graser E (1941) Erythroblastenanämie Typ Cooley bei einem deutschen Kinde. Z Kinderheilkd 62:698
Horst J, Oehme R, Kleihauer E, Kohne E (1983) DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian β-globin gene. Hum Genet 64:263–266
Horst J, Oehme R, Kohne E (1986) Hemoglobin Köln: direct analysis of the gene mutation by synthetic DNA probes. Blood 68:1175–1177
Kazazian HH Jr, Orkin SH, Markham AF, Chapman CR, Youssoufian H, Waber PG (1984a) Quantification of the close association between DNA haplotypes and specific β-thalassemia mutations in Mediterraneans. Nature 310:152–154
Kazazian HH Jr, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG (1984b) Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J 3:593–596
Lapoumeroulie C, Pagnier J, Bank A, Labie D, Krishnamoorthy R (1986) β-Thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site. Biochem Biophys Res Commun 139:709–713
Oehme R, Kohne E, Horst J (1985) DNA-polymorphic patterns linked to the β-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups. Hum Genet 71:219–222
Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV (1982) Linkage of β-thalassaemia mutations and β-globin gene polymorphisms in human β-globin gene cluster. Nature 296:627–631
Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463–5467
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Eigel, A., Schnee, J., Oehme, R. et al. Mutation analysis of β-thalassemia genes in a German family reveals a rare transversion in the first intron. Hum Genet 81, 371–372 (1989). https://doi.org/10.1007/BF00283694
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DOI: https://doi.org/10.1007/BF00283694