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PMID: 88735 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

beta 0 thalassemia, a nonsense mutation in man.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 76 ·No. 6 ·1979-06-00 ·Pages 2886-9

Chang JC, Kan YW

Abstract

We determined the complete nucleotide sequence of the 5' noncoding region and the first 74 amino acids of the nonfunctional beta-globin mRNA in a patient with homozygous beta 0 thalassemia. We identified the molecular defect as a single nucleotide substitution in the coding region of the mRNA. At the position corresponding to amino acid 17, replacement of an adenine by a uracil changes the triplet AAG, which codes for lysine in the normal beta chain, to an amber termination codon, UAG. This type of beta 0 thalassemia represents an example of a nonsense mutation in man.

MeSH Terms
Base Sequence Genetic Code Globins/biosynthesis Humans Mutation Nucleic Acid Hybridization Protein Biosynthesis RNA, Messenger/blood,genetics RNA-Directed DNA Polymerase Thalassemia/blood
Chemicals
RNA, Messenger Globins RNA-Directed DNA Polymerase
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Chang J C
Kan Y W
References (34)
34 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.76.6.2886
Published
1979-06-00
Pages
2886-9
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC383714
Subset
IM
Databases
GENBANK
J00093, J00094, J00096, J00158, J00159, J00160, J00161, J00162, J00163, J00164, J00165, J00166, J00167, J00168, J00169, J00170, J00171, J00172, J00173, J00174, J00175, J00177, J00178, J00179, K01239, K01890, K02544, M18047, M19067, X00423
External Links
PubMed source DOI: 10.1073/pnas.76.6.2886 PMC Full Text View journal details
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