title: Human glucose phosphate isomerase: exon mapping and gene structure.
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.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037, USA.
authors.forename: W
authors.initials: W
authors.lastname: Xu
authors.forename: P
authors.initials: P
authors.lastname: Lee
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000595:Amino Acid Sequence; D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D000818:Animals; D001483:Base Sequence; D003001:Cloning, Molecular; D016384:Consensus Sequence; D017931:DNA Primers; D005091:Exons; D005956:Glucose-6-Phosphate Isomerase / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D007438:Introns; D007962:Leukocytes / Q000201:enzymology; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D016133:Polymerase Chain Reaction; D011994:Recombinant Proteins / Q000096:biosynthesis; D015183:Restriction Mapping; D017386:Sequence Homology, Amino Acid; D013552:Swine
chemical_list: D017931:DNA Primers; D011994:Recombinant Proteins; D005956:Glucose-6-Phosphate Isomerase