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

AUTOR(ES)

Gianni, A M

RESUMO

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.

Documentos Relacionados

• A previously undetected pseudogene in the human alpha globin gene cluster.
• Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster.
• Chromatin structure and developmental expression of the human alpha-globin cluster.
• A silent deletion in the beta-globin gene cluster.
• Versatile cosmid vectors for the isolation, expression, and rescue of gene sequences: studies with the human alpha-globin gene cluster.