Abstract
The beta-globin gene of a patient with mRNA-deficient beta o-thalassemia has been sequenced. We find a single nucleotide deletion in amino acid codon 44 that produces a UGA terminator at codon 60. We have previously shown that the beta-globin mRNA of this patient is correctly spliced and polyadenylated, but rapidly turns over with a half-life of less than 30 min. We suggest that the rapid mRNA turnover is influenced by the deletion of this single nucleotide as well as by the nonsense codon.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Alleles
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Amino Acid Sequence
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Base Sequence
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Bone Marrow / metabolism
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Cloning, Molecular
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Codon / genetics*
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Cytosine / analysis*
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DNA Restriction Enzymes
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Genes*
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Globins / genetics*
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Half-Life
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Humans
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Kinetics
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Male
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Mutation
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RNA, Messenger / deficiency
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RNA, Messenger / genetics*
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Thalassemia / genetics*
Substances
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Codon
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RNA, Messenger
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Cytosine
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Globins
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DNA Restriction Enzymes
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