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Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes.

Abstract
The alpha-thalassemia syndromes are a group of inherited anemias, the clinical severity of which has been shown to increase with the number of alpha-globin structural genes deleted. Employing restriction endonuclease gene mapping, we defined the organization of the alpha-globin genes in cellular DNA from Chinese subjects with various alpha-thalassemia syndromes. The four alpha-globin genes of normals are at two loci located on a 23.0-kilobase pair (kb) Eco RI fragment. In deletion type hemoglobin-H disease the 5' alpha-globin locus is deleted and the single 3' alpha-globin locus is found on a 19.0-kb Eco RI fragment. In alpha-thalassemia-2 there are two alpha-globin genes on a 23.0-kb Eco RI fragment and one on a 19.0-kb fragment. In alpha-thalassemia-1 and the nondeletion type of hemoglobin-H disease the two alpha-globin genes are at two loci on one chromosome and none reside on the other chromosome.
AuthorsS H Embury, R V Lebo, A M Dozy, Y W Kan
JournalThe Journal of clinical investigation (J Clin Invest) Vol. 63 Issue 6 Pg. 1307-10 (Jun 1979) ISSN: 0021-9738 [Print] United States
PMID447845 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Globins
  • DNA
  • DNA Restriction Enzymes
Topics
  • China
  • Chromosome Deletion
  • Chromosome Mapping
  • DNA (genetics)
  • DNA Restriction Enzymes
  • Genes
  • Globins (genetics)
  • Humans
  • Syndrome
  • Thalassemia (genetics)

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