The possible linkage between a gene causing heterocellular hereditary persistence of fetal hemoglobin (HPFH) and human non-alpha globin loci has been studied in a large Sardinian family. In this family a homozygous beta o-thalassemic patient was found, with an unusually mild form of this disease, which was ascribed to the co-existence of a gene causing heterocellular HPFH. DNA polymorphisms in the non-alpha globin cluster were analyzed by restriction enzyme digestion with HincII, HindIII and BamHI and with epsilon-, gamma-and beta-globin probes; the pattern of inheritance of these polymorphisms indicates that the HPFH gene is transmitted with one beta o-thalassemic gene in a single instance, with the second beta o-thalassemic gene in three instances and with a normal beta-globin gene in two cases. These data indicate that this HPFH gene is not linked to the non-alpha globin gene cluster, in contrast to previous observations with different HPFH genes, and suggest that this gene might code for diffusible substances acting, directly or indirectly, on gamma-globin gene expression.

A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster / A. Gianni, M. Bregni, M. D. Cappellini, G. Fiorelli, R. Taramelli, B. Giglioni, P. Comi, S. Ottolenghi. - In: EMBO JOURNAL. - ISSN 0261-4189. - 2:6(1983), pp. 921-925.

A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster

A. Gianni;M. D. Cappellini;
1983

Abstract

The possible linkage between a gene causing heterocellular hereditary persistence of fetal hemoglobin (HPFH) and human non-alpha globin loci has been studied in a large Sardinian family. In this family a homozygous beta o-thalassemic patient was found, with an unusually mild form of this disease, which was ascribed to the co-existence of a gene causing heterocellular HPFH. DNA polymorphisms in the non-alpha globin cluster were analyzed by restriction enzyme digestion with HincII, HindIII and BamHI and with epsilon-, gamma-and beta-globin probes; the pattern of inheritance of these polymorphisms indicates that the HPFH gene is transmitted with one beta o-thalassemic gene in a single instance, with the second beta o-thalassemic gene in three instances and with a normal beta-globin gene in two cases. These data indicate that this HPFH gene is not linked to the non-alpha globin gene cluster, in contrast to previous observations with different HPFH genes, and suggest that this gene might code for diffusible substances acting, directly or indirectly, on gamma-globin gene expression.
Genetic Linkage; Pedigree; Polymorphism, Genetic; Humans; Thalassemia; Fetal Hemoglobin; Globins; DNA Restriction Enzymes; Genes; Adult; DNA; Gene Expression Regulation; Female; Male
Settore MED/06 - Oncologia Medica
EMBO JOURNAL
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/176436
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