title: The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.
abstract: DNA was isolated from four unrelated glucose phosphate isomerase-deficient patients. Seven new mutations in the coding region were found: 247 C-->T, 671 C-->T, 818 G-->A, 833 C-->T, 1039 C-->T, 1459 C-->T, and 1483 G-->A. Three patients were compound heterozygotes, and one patient was a homozygote of 247 C-->T/247 C-->T. Six mutations were found to involve highly conserved amino acids of glucose phosphate isomerase, suggesting that these residues are crucial for the maintenance of biological activity. Two polymorphic sites were also identified, 489 A-->G and 1356 G-->C, which do not produce a change in the amino acid sequence.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037.
authors.forename: W
authors.initials: W
authors.lastname: Xu
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D001483:Base Sequence; D044383:Black People; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005956:Glucose-6-Phosphate Isomerase / Q000235:genetics*; D006801:Humans; D007198:Indians, North American; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D014481:United States / Q000208:ethnology; D044465:White People; D001741:Black or African American
chemical_list: D005956:Glucose-6-Phosphate Isomerase