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. 1979 Jun;63(6):1307–1310. doi: 10.1172/JCI109426

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

S H Embury, R V Lebo, A M Dozy, Y W Kan
PMCID: PMC372080  PMID: 447845

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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