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PMID: 6278453 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Two cloned beta thalassemia genes are associated with amber mutations at codon 39.

Nucleic acids research ·Vol. 9 ·No. 24 ·1981-12-21 ·Pages 7065-72

Pergolizzi R, Spritz RA, Spence S, Goossens M, Kan YW, Bank A

Abstract

Two beta globin genes from patients with the beta(+) thalassemia phenotype have been cloned and sequenced. A single nucleotide change from CAG to TAG (an amber mutation) at codon 39 is the only difference from normal in both genes analyzed. The results are consistent with the assumption that both patients are doubly heterozygous for beta(+) and beta degrees thalassemia, and that we have isolated and analyzed the beta degrees thalassemia gene.

MeSH Terms
Base Sequence Cloning, Molecular Codon DNA Restriction Enzymes Genes Globins/genetics Humans Mutation RNA, Messenger/genetics Thalassemia/genetics
Chemicals
Codon RNA, Messenger Globins DNA Restriction Enzymes
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Pergolizzi R
Spritz R A
Spence S
Goossens M
Kan Y W
Bank A
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22 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/9.24.7065
Published
1981-12-21
Pages
7065-72
Language
English
Region
England
NLM ID
0411011
PMCID
PMC327662
Subset
IM
Grants
NIADDK NIH HHS · AM-16666 · United States
NIADDK NIH HHS · AM-25274 · United States
External Links
PubMed source DOI: 10.1093/nar/9.24.7065 PMC Full Text View journal details
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