The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia.

Abstract

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.

• Authors: E R Fearon, H H Kazazian Jr, P G Waber, J I Lee, S E Antonarakis, S H Orkin, E F Vanin, P S Henthorn, F G Grosveld, A F Scott, G R Buchanan
• Journal: Blood (Blood) Vol. 61 Issue 6 Pg. 1269-74 (Jun 1983) ISSN: 0006-4971 [Print] United States
• PMID: 6839025 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Globins

Topics

• Chromosome Deletion
• Chromosome Mapping
• Gene Expression Regulation
• Genes
• Globins (genetics)
• Humans
• Infant
• Male
• Thalassemia (genetics)