Several mutations including two novel mutations of the glucose-6- phosphate dehydrogenase gene in polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism

Human Mutation

Volumn 14, Issue 6, 1999, Pages 477-484

  Jablonska Skwiecinska, Ewa ^a   Lewandowska, Irmina ^b   Plochocka, Danuta ^b   Topczewski, Jacek ^b,c   Zimowski, Janusz G ^d   Klopocka, Jolanta ^a   Burzynska, Beata ^b  

^a MEDICAL CENTER FOR POSTGRADUATE EDUCATION   (Poland)

^b INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

^c VANDERBILT UNIVERSITY   (United States)

^d INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

Author keywords

Acute hemolytic anemia; Chronic nonspherocytic hemolytic anemia; Favism; G6PD deficiency in Poland; G6PD Radlowo; G6PD structure; G6PD Torun

Indexed keywords

DNA; GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; FAVISM; FEMALE; GENE; GENE MUTATION; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMOLYTIC ANEMIA; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE;

ACUTE DISEASE; ADOLESCENT; ADULT; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHRONIC DISEASE; DNA PRIMERS; FAVISM; FEMALE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; PEDIGREE; PHENOTYPE; POINT MUTATION; POLAND; PROTEIN CONFORMATION; VARIATION (GENETICS);

EID: 0032762791     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199912)14:6<477::AID-HUMU6>3.0.CO;2-X     Document Type: Article

References (24)

1. Beutler E. 1971. Red cell metabolism - a manual of biochemical methods. New York: Grune and Stratton. p 62-64.
2. Beutler E, Kuhl W, Gelbert T, Forman L. 1991a. DNA sequence abnormalities of human glucose-6-phosphate dehydiogenase variants. J Biol Chem 266:4145-4150.
3. Beutler E, Kuhl W, Sáenz GF, Rodriguez W. 1991b. Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica. Hum Genet 87:462-464.
4. Capellini MD, Martinez di Montemuros F, Fiorelli G. 1994. Different origin of nt 1246 glucose-6-phosphate dehydrogenase mutation (Letter). Blood 84:3592.
5. G6P and marked in vivo instability. Br J Haematol 80:111-116.
6. Guex N, Peitsch MC. 1997. SWISS-MODEL and the Swiss-Pdb Viewer. An environment for comparative protein modelling. Electrophoresis 18:2714-2723.
7. Hanke J, Kuczynski T, Linkowska R. 1968. Proba oceny czestotliwosci wystepowania niedoborów G6PD w krwince czerwonej w populacji polskiej (Frequency of the erythrocyte glucose-6-phosphate dehydrogenase deficiency in Polish population - a trial of evaluation). Med Pr 19:532-536.
8. Hirono A, Fujii H, Hirono K, Kanno H, Miwa S. 1992. Molecular abnormality of Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia. Hum Genet 88:347-348.
9. Hirono A, Miwa S, Fujii H, Ishida F, Yamada K, Kubota K. 1994. Molecular study of eight Japanese cases of glucose -6-phosphate dehydrogenase deficiency by nonradioisotopic single -strand conformation polymorphism analysis. Blood 83: 3363-3368.
10. Hirono A, Fujii H, Takano T, Chiba Y, Azuno Y, Miwa S. 1997. Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan. Blood 89:4624-4627.
11. Jablonska-Skwiecinska E, Zimowski JG, Klopocka J, Bisko M, Hoffman-Zacharska D, Zaremba J. 1997. Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland - study on the 563 and 1311 mutations of the G6PD gene. Eur J Hum Genet 5:22-24.
12. Jacobasch G, Buckwitz D, Jurowski R, Gerth C, Plonka A, Kuckelkorn U. 1987. Heterogeneity of glucose-6-phosphate dehydrogenase enzymopathies in the GDR. Biomed Biochim Acta 46:177-181.
13. Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Rary JM. 1977. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245-1249.
14. Mason PJ, Sonati MF, MacDonald D, Lanza C, Busutil D, Town M, Corcoran CM, Kaeda JS, Stevens DJ, Al-Ismail S, Altay S, Hatton C, Lewis DS, McMullin MF, Meloni T, Paul B, Pippard M, Prentice AG, Vulliamy TJ, Luzzatto L. 1995. New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. Blood 85:1377-1380.
15. Miwa S, Ono J, Nakashima K, Abe S, Kageoka T, Shinohara K. 1976. Two new glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: Gd(-) Tokushima and Gd(-) Tokyo. Am J Hematol 1:433-442.
16. Naylor CE, Rowland P, Basak AK, Gover S, Mason PJ, Bautista JM, Vulliamy TJ, Luzzatto L, Adams MJ. 1996. Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme. Blood 87:2974-2982.
17. Pai GS, Sprenkle JA, Do TT, Mareni CE, Migeon BR. 1980. Localisation of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of human X-autosome translocation. Proc Natl Acad Sci USA 77:2810-2813.
18. Peitsch MC. 1995. Protein modeling by E-mail. Bio/Technology 13:658-660.
19. Peitsch MC. 1996. ProMod and Swiss-model: internet-based tools tor automated comparative protein modelling. Biochem Soc Trans 24:274-279.
20. Rowland P, Basak AK, Gover S, Levy HR, Rand M, Adams MJ. 1994. The three-dimensional structure of glucose 6-phosphate dehydrogenase from Leuconostoc mesenteroides refined at 2.0 Å resolution. Structure 2:1073-1087.
21. Sparkes RS, Baluda MC, Townsend DE. 1969. Cellulose acetate electrophoresis of human glucose-6-phosphate dehydrogenase. J Lab Clin Med 73:531-534.
22. Vulliamy T, Luzzatto L, Hirono A, Beutler E. 1997. Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 23:302-313.
23. WHO Scientific Group. 1967. Standardisation of procedures for the study of glucose-6-phosphate dehydrogenase. WHO Techn Rep Ser.
24. Yoshida A, Beutler E, Motulsky AG. 1971. Human glucose-6-phosphate dehydrogenase variants. Bull WHO 45: 243-253.