Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man

摘要: Abstract DNA at the end point of gene deletion associated with one form hereditary persistence fetal hemoglobin (HPFH) was cloned and used as a probe in mapping experiments to analyze extent approximate 3' points various deletions HPFH delta beta-thalassemia. The two known forms deletion-type were shown be considerably more extensive than cases beta-thalassemia studied. overall extents types quite similar both located minimum distance approximately equal 52 57 kilobases from extremity beta-globin gene. In contrast, 5 10 side these nature DNA brought into vicinity gamma-globin genes by may therefore important influence on phenotype specific sequences that are deleted within non-alpha-globin cluster result mutations.