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PMID: 3763397 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Gamma delta beta-thalassaemias 1 and 2 are the result of a 100 kbp deletion in the human beta-globin cluster.

Nucleic acids research ·Vol. 14 ·No. 17 ·1986-09-11 ·Pages 7017-29

Taramelli R, Kioussis D, Vanin E, Bartram K, Groffen J, Hurst J, Grosveld FG

Abstract

The DNA spanning two large deletions in the human beta-globin gene cluster (gamma beta-thalassaemia 1 and 2) has been cloned by cosmid cloning and chromosomal walking. The entire region was mapped and analyzed for the presence of repetitive sequences. The results show that the affected loci have lost almost 100 kb of DNA in a deletion event not involving homologous or repetitive sequences.

MeSH Terms
Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 11 Globins/genetics Humans Multigene Family Repetitive Sequences, Nucleic Acid Thalassemia/genetics
Chemicals
Globins
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Taramelli R
Kioussis D
Vanin E
Bartram K
Groffen J
Hurst J
Grosveld F G
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19 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/14.17.7017
Published
1986-09-11
Pages
7017-29
Language
English
Region
England
NLM ID
0411011
PMCID
PMC311714
Subset
IM
External Links
PubMed source DOI: 10.1093/nar/14.17.7017 PMC Full Text View journal details
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