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PMID: 4000967 Published · ppublish English Journal Article

Analysis of an inversion within the human beta globin gene cluster.

Nucleic acids research ·Vol. 13 ·No. 8 ·1985-04-25 ·Pages 2897-906

Jennings MW, Jones RW, Wood WG, Weatherall DJ

Abstract

We have cloned and sequenced the DNA from two regions of the defective beta-globin gene cluster from a patient with Indian A gamma delta beta thalassaemia, and confirmed the complex and unusual pattern of rearrangement involving two separate deletions (0.8 kb and 7.5 kb) the inversion of the 15.5 kb segment separating them, as previously proposed from gene mapping studies [1]. All four breakpoints occur within the transcribed region of the globin genes and at one junction are found six nucleotides of unknown origin. This unique rearrangement results in enhanced expression of the upstream fetal gene, and is therefore is pertinent to the localisation of any putative control region involved in the coordinate expression of fetal and adult genes.

MeSH Terms
Base Sequence Chromosome Deletion Chromosome Inversion Cloning, Molecular Gene Expression Regulation Globins/genetics Humans Thalassemia/genetics
Chemicals
Globins
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Jennings M W
Jones R W
Wood W G
Weatherall D J
References (33)
33 references, click to expand
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Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
0305-1048
DOI
10.1093/nar/13.8.2897
Published
1985-04-25
Pages
2897-906
Language
English
Region
England
NLM ID
0411011
PMCID
PMC341202
Subset
IM
External Links
PubMed source DOI: 10.1093/nar/13.8.2897 PMC Full Text View journal details
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