The spectrum of beta-thalassemia genes in China and Southeast Asia

To make possible prenatal diagnosis of beta-thalassemia in China and Southeast Asia by direct detection of mutant beta-globin genes, we have determined the spectrum of mutations producing the disorder in this region of the world. Seventy-eight beta-thalassemia genes from Chinese and Southeast Asians...

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Bibliographic Details
Published in:Blood 1986-10, Vol.68 (4), p.964-966
Main Authors: Kazazian, HH Jr, Dowling, CE, Waber, PG, Huang, S, Lo, WH
Format: Article
Language:English
Online Access:Get full text
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Summary:To make possible prenatal diagnosis of beta-thalassemia in China and Southeast Asia by direct detection of mutant beta-globin genes, we have determined the spectrum of mutations producing the disorder in this region of the world. Seventy-eight beta-thalassemia genes from Chinese and Southeast Asians were randomly obtained, and the relevant mutation was characterized in 76 (98%) of them. Seven different point mutations were found among the 78 genes studied. Of these seven beta-thalassemia alleles, two constitute 62%, and two others account for 29% of the total. Since only four alleles make up 91% of the mutant genes, prenatal diagnosis of beta-thalassemia in China and Southeast Asia should be feasible by simplified techniques for direct detection of point mutations.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V68.4.964.bloodjournal684964