Nucleotide sequence of the Belgian G gamma+(A gamma delta beta)0-thalassemia deletion breakpoint suggests a common mechanism for a number of such recombination events

Genomics. 1990 Dec;8(4):732-5. doi: 10.1016/0888-7543(90)90263-t.

Abstract

Various types of thalassemia or hereditary persistence of fetal hemoglobin (HPFH) are caused by deletions at the human beta-globin gene cluster. Many of these molecular lesions show a clear clustering as far as size and location of their breakpoints are concerned. This might indicate common recombination mechanisms responsible for the generation of these deletions. The Belgian G gamma+(A gamma delta beta)zero-thalassemia results from a large deletion spanning the beta-globin gene cluster 3' of the A gamma gene. The extent of this deletion, analyzed by field-inversion gel electrophoresis, is approximately 50 kb and is very similar to that of the Indian HPFH (G gamma A gamma HPFH III) previously characterized by P. S. Henthorn et al. (1986). Proc. Natl. Acad. Sci. USA 83: 5194-5198. Isolation of the deletion junction of the Belgian G gamma+(A gamma delta beta)zero-thalassemia by means of inverse polymerase chain reaction confirmed a very close relationship between these two independent deletions. The 3' breakpoint of the Belgian deletion is located at the midpoint of a 160-bp palindrome, only four nucleotides 5' from the correspondent endpoint of the Indian HPFH.

MeSH terms

  • Base Sequence
  • Chromosome Deletion*
  • Globins / genetics*
  • Humans
  • Molecular Sequence Data
  • Multigene Family*
  • Polymerase Chain Reaction
  • Recombination, Genetic*
  • Repetitive Sequences, Nucleic Acid
  • Restriction Mapping
  • Thalassemia / genetics*

Substances

  • Globins

Associated data

  • GENBANK/M33931