Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA)

Blood Cells, Molecules and Diseases

Volumn 23, Issue 3, 1997, Pages 402-409

  Beutler, Ernest ^a   West, Carol ^a   Britton, Howard A ^b   Harris, John ^c   Forman, Linda ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^c METROHEALTH MEDICAL CENTER   (United States)

Author keywords

Erythrocyte; Glycolysis; Polymorphism

Indexed keywords

GLUCOSE 6 PHOSPHATE ISOMERASE;

ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HEMOLYTIC ANEMIA; HUMAN; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0031409786     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1997.0157     Document Type: Article

References (25)

1. Beutler E. Red cell enzyme defects as non-diseases and as diseases. Blood. 54:1979;1-7.
2. Hirono A, Forman L, Beutler E. Enzymatic diagnosis in non-spherocytic hemolytic anemia. Medicine (Baltimore). 67:1988;110-117.
3. Miwa S, Fujii H. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: Tabulation of mutant enzymes. Am J Hematol. 51:1996;122-132.
4. Baronciani L, Beutler E. Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia. Proc Natl Acad Sci USA. 90:1993;4324-4327.
5. Schneider A, Westwood B, Yim C. The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families. Blood Cells Mol Dis. 22:1996;115-125.
6. E, Beutler, 1971, Red Cell Metabolism: A Manual of Biochemical Methods, Grune & Stratton, Inc. New York.
7. E, Beutler, 1984, Red Cell Metabolism: A Manual of Biochemical Methods, Grune & Stratton, Inc. New York, NY.
8. Beutler E, Sigalove W H, Muir W A, Matsumoto F, West C. Glucosephosphate-isomerase (GPI) deficiency: GPI Elyria. Ann Intern Med. 80:1974;730-732.
9. Feder J N, Gnirke A, Thomas W. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet. 13:1996;399-408.
10. Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet. 61:1997;762-764.
11. Shalev O, Shalev R S, Forman L, Beutler E. GPI Mount Scopus - A variant of glucosephosphate isomerase deficiency. Ann Hematol. 67:1993;197-200.
12. Xu W M, Lee P, Beutler E. Human glucose phosphate isomerase: Exon mapping and gene structure. Genomics. 29:1995;732-739.
13. Xu W, Beutler E. A new exonic polymorphism in the human glucose phosphate isomerase (GPI) gene. Blood Cells Mol Dis. 23:1997;377-379.
14. Kanno H, Fujii H, Hirono A. Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. Blood. 88:1996;2321-2325.
15. Xu W, Beutler E. The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. J Clin Invest. 94:1994;2326-2329.
16. Baronciani L, Zanella A, Bianchi P. Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. Blood. 88:1996;2306-2310.
17. Walker J IH, Layton D M, Bellingham A J, Morgan M J, Faik P. DNA sequence abnormalities in human glucose-6-phosphate isomerase deficiency. Hum Mol Genet. 2:1993;327-329.
18. Vulliamy T, Luzzatto L, Beutler E. Hematologically important mutations: Glucose-6-phosphate dehydro-genase. Blood Cells Mol Dis. 23:1997;302-313.
19. Cooper D N, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet. 78:1988;151-155.
20. Bird A P. DNA methylation and the frequency of CpG in animal DNA. Nucleic Acids Res. 8:1980;1499-1504.
21. Welling D B, Guida M, Goll F. Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas. Hum Genet. 98:1996;189-193.
22. Lenzner C, Nürnberg P, Jacobasch G, Gerth C, Thiele B J. Molecular analysis of 29 pyruvate kinase-deficient patients from Central Europe with hereditary hemolytic anemia. Blood. 89:1997;1793-1799.
23. Zanella A, Bianchi P, Baronciani L. Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. Blood. 89:1997;3847-3852.
24. Youssoufian H, Kazazian H HJ, Phillips D G. Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature. 324:1986;380-382.
25. Knobloch O, Zoll B, Zerres K, Brackmann H H, Olek K, Ludwig M. Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations. Hum Genet. 92:1993;40-48.