The entire β-globin gene cluster is deleted in a form of τδβ-thalassemia.
January 1983
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We have used restriction endonuclease mapping to study a deletion involving the beta-globin gene cluster in a Mexican-American family with gamma delta beta-thalassemia. Analysis of DNA polymorphisms demonstrated deletion of the beta-globin gene from the affected chromosome. Using a DNA fragment that maps greater than 40 kilobases (kb) 5' to the epsilon-gene as a probe, reduced amounts of normal fragments were found in the DNA of affected family members. Similar analysis using radiolabeled DNA fragments located 3' to the beta-globin cluster has shown that the deletion extends more than 17 kb 3' to the beta-gene, but terminates before the 3' endpoint of the Ghanian HPFH deletion. Hence, this gamma delta beta-thalassemia deletion eliminates over 105 kb of DNA and is the first report of a deletion of the entire beta-globin gene cluster.
- Male
- Human
- Support, Non-U.S. Gov't
- Gene Expression Regulation
- Support, U.S. Gov't, P.H.S.
- Infant
- Chromosome Mapping
- Genes, Structural
- 9004-22-2 (Globins)
- Globins/genetics
- Thalassemia/genetics
- Chromosome Deletion
