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.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Base Sequence
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Genetic Code
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Globins / biosynthesis*
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Humans
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Mutation
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Nucleic Acid Hybridization
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Protein Biosynthesis
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RNA, Messenger / blood*
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RNA, Messenger / genetics
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RNA-Directed DNA Polymerase
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Thalassemia / blood*
Substances
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RNA, Messenger
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Globins
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RNA-Directed DNA Polymerase
Associated data
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GENBANK/J00093
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GENBANK/J00094
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GENBANK/J00096
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GENBANK/J00158
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GENBANK/J00159
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GENBANK/J00160
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GENBANK/J00161
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GENBANK/J00162
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GENBANK/J00163
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GENBANK/J00164
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GENBANK/J00165
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GENBANK/J00166
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GENBANK/J00167
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GENBANK/J00168
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GENBANK/J00169
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GENBANK/J00170
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GENBANK/J00171
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GENBANK/J00172
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GENBANK/J00173
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GENBANK/J00174
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GENBANK/J00175
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GENBANK/J00177
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GENBANK/J00178
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GENBANK/J00179
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GENBANK/K01239
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GENBANK/K01890
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GENBANK/K02544
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GENBANK/M18047
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GENBANK/M19067
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GENBANK/X00423