Abstract
The molecular basis for deficiency of beta-globin synthesis in beta-thalassemia was investigated by gene cloning and DNA sequencing. beta-Globin genes of two patients with beta 0-thalassemia were cloned in a phage lambda vector. Both beta-genes transcribed normally in vitro. The gene of an Italian individual had a single nucleotide substitution (C leads to T) in the codon for amino acid 39 that resulted in formation of a nonsense codon. In a Turkish individual, the cloned beta-globin gene had a dinucleotide deletion in the codon for amino acid 8. This frameshift mutation produced a termination codon at the position of the new 21st codon. Mutations that lead to premature termination of beta-globin synthesis appear to be among the common causes of beta 0-thalassemia in man.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Cloning, Molecular*
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Codon / genetics
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DNA, Recombinant / metabolism*
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Genes*
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Globins / genetics*
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Humans
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Italy / ethnology
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Mutation*
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Thalassemia / genetics*
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Transcription, Genetic
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Turkey / ethnology
Substances
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Codon
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DNA, Recombinant
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Globins
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