Abstract
The structure of the gene for human glucose phosphate isomerase (GPI) has been determined. Three GPI clones were isolated from a human genomic library by using a full-length GPI cDNA probe and were characterized. Oligonucleotides based on the known cDNA sequence were used as primers in amplification and sequence analyses. This led to the identification of the exon-intron junctions. By this approach, 18 exons and 17 introns have been identified. The exons range in size from 44 to 431 nucleotides. The intronic sequences surrounding the exons provide useful information for the identification of mutations that give rise to human GPI deficiency associated with chronic hemolytic anemia.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
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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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Anemia, Hemolytic / enzymology
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Anemia, Hemolytic / genetics
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Anemia, Hemolytic, Congenital Nonspherocytic
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Animals
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Base Sequence
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Cloning, Molecular
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Consensus Sequence
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DNA Primers
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Exons
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Glucose-6-Phosphate Isomerase / biosynthesis
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Glucose-6-Phosphate Isomerase / genetics*
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Humans
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Introns
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Leukocytes / enzymology
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Molecular Sequence Data
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Mutagenesis, Insertional
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Polymerase Chain Reaction
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Recombinant Proteins / biosynthesis
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Restriction Mapping
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Sequence Homology, Amino Acid
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Swine
Substances
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DNA Primers
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Recombinant Proteins
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Glucose-6-Phosphate Isomerase
Associated data
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GENBANK/S81033
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GENBANK/S81035
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GENBANK/S81036
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GENBANK/S81041
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GENBANK/S81042
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GENBANK/S81046
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GENBANK/S81047
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GENBANK/S81048
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GENBANK/S81052
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GENBANK/S81053
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GENBANK/S81054
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GENBANK/S81055
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GENBANK/S81056
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GENBANK/S81057
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GENBANK/S81058
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GENBANK/S81059
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GENBANK/S81060
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GENBANK/S81061
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GENBANK/S81066
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GENBANK/S81068
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GENBANK/S81069
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GENBANK/S81073
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GENBANK/S81075
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GENBANK/S81084