A novel deletion in delta beta-thalassemia found in Japan

Biochem Biophys Res Commun. 1985 Jan 16;126(1):185-91. doi: 10.1016/0006-291x(85)90589-3.

Abstract

High molecular weight DNA from a Japanese individual homozygous for delta beta-thalassemia was analyzed by the blot hybridization technique of Southern. Results indicated a large deletion of the non-alpha-globin gene cluster, starting in the vicinity of 3' to the A gamma-globin gene and extending through the 3' side of the beta-globin gene. Persistent expression of the gamma-globin gene in adult life has been supposed to be caused by loss of a region located about 3-4 kb 5' to the delta-globin gene from comparison of the extents of deletions in several different forms of delta beta-thalassemia and HPFH (hereditary persistence of fetal hemoglobin). But the novel deletion found in the present case of delta beta-thalassemia suggests that the above putative regulatory region does not have this effect on expression of the gamma-globin gene. Some explanations of expression of fetal type globin genes in this delta beta-thalassemia are discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Deletion*
  • DNA / analysis
  • DNA Restriction Enzymes / metabolism
  • Humans
  • Nucleic Acid Hybridization
  • Thalassemia / genetics*

Substances

  • DNA
  • DNA Restriction Enzymes