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A gene controlling fetal hemoglobin expression in adults is not linked to the non‐alpha globin cluster.
Author(s) -
Gianni A.M.,
Bregni M.,
Cappellini M.D.,
Fiorelli G.,
Taramelli R.,
Giglioni B.,
Comi P.,
Ottolenghi S.
Publication year - 1983
Publication title -
the embo journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.484
H-Index - 392
eISSN - 1460-2075
pISSN - 0261-4189
DOI - 10.1002/j.1460-2075.1983.tb01522.x
Subject(s) - biology , fetal hemoglobin , information retrieval , genetics , computer science , fetus , pregnancy
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.