A silent deletion in the beta-globin gene cluster.

Journal article

A survey of the gamma-globin gene region of over 1000 normal individuals revealed a novel 2.5 kb deletion which removes the 5' end of the A gamma-globin gene. Unusually, this deletion in the beta-globin gene cluster is not associated with increased fetal haemoglobin production. Sequence analysis of the deletion endpoints revealed no significant homology at the breakpoint and failed to support a role for a proposed recombination hotspot in IVS-2 in the generation of this illegitimate recombination event. The existence of small "silent" deletions in the beta-globin gene cluster emphasizes the importance of deletion size in altering expression of the fetal globin genes.

Authors: Tate, V; Hill, A; Bowden, D; Sadler, JR; Weatherall, D

• Publication status: Published
• Journal: Nucleic acids research
• Volume: 14
• Issue: 12
• Pages: 4743-4750
• Publication date: 1986-06-01
• DOI: 10.1093/nar/14.12.4743
• EISSN: 1362-4962
• ISSN: 0305-1048
• Language: English
• Keywords: Humans; Melanesia; Chromosome Deletion; Globins; DNA Restriction Enzymes; Gene Expression Regulation; Base Sequence; Fetal Hemoglobin; Cloning, Molecular