Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan

Blood

Volumn 89, Issue 12, 1997, Pages 4624-4627

  Hirono, Akira ^a   Fujii, Hisaichi ^b   Takano, Toshikuni ^b   Chiba, Yasuko ^b   Azuno, Yoichi ^b   Miwa, Shiro ^b  

^a Okinaka Memorial Institute for Medical Research   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; CYSTEINE; DNA; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; PHENYLALANINE; POLYPEPTIDE; PROLINE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROPHORETIC MOBILITY; ENZYME ACTIVITY; ENZYME SPECIFICITY; HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATION; PH; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SINGLE STRAND CONFORMATION POLYMORPHISM; THERMOSTABILITY;

EID: 0030925041     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v89.12.4624     Document Type: Article

References (38)

1. Betke K, Beutler E, Brewer GJ, Kirkman HN, Luzzatto L, Motulsky AG, Ramot B, Siniscalco M: Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO scientific group. WHO Tech Rep Ser No. 366, 1967
2. Beutler E, Yoshida A: Genetic variation of glucose-6-phos-phate dehydrogenase: A catalog and future prospects. Medicine 67:311, 1988
3. Luzzatto L, Mehta A: Glucose-6-phosphate dehydrogenase deficiency, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease (ed 7). New York, NY, McGraw-Hill, 1995, p 3367
4. Takizawa T, Yoneyama Y, Miwa S, Yoshida A: A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A(+). Genomics 1:228, 1987
5. Beutler E, Vulliamy T, Luzzatto L: Hematologically important mutations: Glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 22:49, 1996
6. Rowland P, Basak AK, Gover S, Levy HR, Adams MJ: The three-dimensional structure of glucose 6-phosphate dehydrogenase from Leuconostoc mesenteroides refined at 2.0 Å resolution. Structure 2:1073, 1994
7. Naylor CE, Rowland P, Basak AK, Gover S, Mason PJ, Bautista JM, Vulliamy TJ, Luzzatto L, Adams MJ: Glucose 6-phophate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme. Blood 87:2974, 1996
8. Kumakawa T, Suzuki S, Fujii H, Miwa S: Frequency of glucose 6-phosphate dehydrogenase (G6PD) deficiency in Tokyo and a new variant: G6PD Musashino. Acta Haematol Jpn 50:25, 1987
9. Takizawa T, Fujii H, Takegawa S, Takahashi K, Hirono A, Morisaki T, Kanno H, Oka R, Yoshioka H, Miwa S: A unique electrophoretic slow-moving glucose 6-phosphate dehydrogenase variant (G6PD Asahikawa) with a markedly acidic pH optimum. Hum Genet 68:70, 1984
10. Kanno H, Takano T, Fujii H, Tani K, Morisaki T, Hirono A, Kumakawa T, Ogura H, Takahashi K, Tsutsumi H, Miwa S: A new glucose-6-phosphate dehydrogenase variant (G6PD Iwate) associated with congenital non-spherocytic hemolytic anemia. Acta Haematol Jpn 51:715, 1988
11. Chiba Y, Takizawa S, Kishi K, Hattori A, Shibata A, Matsumoto N, Fujii H, Miwa S: A new glucose 6-phosphate dehydrogenase (G6PD) variant (G6PD Niigata) with chronic hemolysis and liver hemochromatosis. J Jpn Soc Int Med (Nippon Naika Gakkai Zasshi) 78:41, 1989
12. Miwa S, Fujii H, Nakatsuji T, Ishida Y, Oda E, Kaneto A, Motokawa M, Ariga Y, Fukuchi S, Sasai S, Hiraoka K, Kashii H, Kodama T: Four new electrophoretically slow-moving glucose 6-phosphate dehydrogenase variants associated with congenital non-spherocytic hemolytic anemia found in Japan:Gd(-) Kurume, Gd(-) Fukushima, Gd(-) Yamaguchi and Gd(-) Wakayama. Am J Hematol 5:131, 1978
13. Endo M, Takano T, Suzuki K, Tsutsumi H, Kumakawa T, Ogura H, Kanno H, Hirono A, Morisaki T, Tani K, Takahashi K, Fujii H, Miwa S: A new glucose-6-phosphate dehydrogenase variant (G6PD Morioka). Rinsho Ketsueki 28:377a, 1985 (suppl)
14. Nakatsuji T, Miwa S: Incidence and characteristics of glucose 6-phosphate dehydrogenase variants in Japan. Hum Genet 51:297, 1979
15. Goossens M, Kan YW: DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol 76:805, 1981
16. Hirono A, Miwa S, Fujii H: Cellulose-treated blood is a good source of DNA for molecular analysis. Am J Hematol 46:252, 1994
17. Hirono A, Miwa S, Fujii H, Ishida F, Yamada K, Kubota K: Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by non-radioisotopic single-strand conformation polymorphism analysis. Blood 83:3363, 1994
18. Orita M, Suzuki Y, Sekiya T, Hayashi K: Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874, 1989
19. + of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants. Proc Natl Acad Sci USA 86:10015, 1989
20. Gaetani GF, Galiano S, Melani C, Miglino M, Forni GL, Napoli G, Perrone L, Ferraris AM: A new glucose-6-phosphate dehydrogenase variant with congenital non spherocytic haemolytic anaemia (G6PD Genova). Hum Genet 84:337, 1990
21. Snyder LM, Necheles TF, Reddy WJ: G-6-PD Worcester: A new variant, associated with X-linked optic atrophy. Am J Med 49:125, 1970
22. Fujii H, Miwa S, Tani K, Takegawa S, Fujinami N, Takahashi K, Nakayama S, Konno M, Sato T: Glucose 6-phosphate dehydrogenase variants: A unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge. Hum Genet 58:405, 1981
23. Hirono A, Nakayama S, Fujii H, Miwa S: Molecular abnormality of a unique Japanese glucose-6-phosphate dehydrogenase variant (G6PD Kobe) with a greatly increased affinity for galactose-6-phosphate. Am J Hematol 45:185, 1994
24. Hirono A, Fujii H, Hirono K, Kanno H, Miwa S: Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia. Hum Genet 88:347, 1992
25. Miwa S, Ono J, Nakashima K, Abe S, Kageoka T, Shinohara K, Isobe J, Yamaguchi H: 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, 1976
26. Mason PJ, Sonati MF, MacDonald D, Lanza C, Busutil D, Town M, Corcoran CM, Kaeda JS, Stevens DJ, Al-Ismail S, Altay C, Hatton C, Lewis DS, McMullin MF, Meloni T, Paul B, Pippard M, Prentice AG, Vulliamy TJ, Luzzatto L: New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. Blood 85:1377, 1995
27. Cappellini MD, Martinez di Montemuros F, Fiorelli G: Different origin of nt 1246 glucose-6-phosphate dehydrogenase mutation. Blood 84:3592, 1994
28. Beutler E, Kuhl W: The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. Am J Hum Genet 47:1008, 1990
29. Vulliamy TJ, D'Urso M, Battistuzzi G, Estrada M, Foulkes NS, Martini G, Calabro V, Poggi V, Giordano R, Town M, Luzzatto L, Persico MG: Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc Natl Acad Sci USA 85:5171, 1988
30. Vives-Corrons JL, Pujades MA, Petit J, Colomer D, Corbella M, Aguilar I, Bascompte JLA, Merino A: Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP): Molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum. Hum Genet 81:161, 1989
31. Rovira A, Vulliamy T, Pujades MA, Luzzatto L, Vives-Corrons JL: Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: Identification of two new point mutations in the G6PD gene. Br J Haematol 91:66, 1995
32. Chiu DTY, Zuo L, Chen E, Chao L, Louie E, Lubin B, Liu TZ, Du CS: Two commonly occurring nucleotide base substitutions in Chinese G6PD variants. Biochem Biophys Res Commun 180:988, 1991
33. Hirono A, Fujii H, Miwa S: Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehy-drogenase variants in Japan. Hum Genet 91:507, 1993
34. Ninfali P, Baronciani L, Ruzzo A, Fortini C, Amadori E, Dall'ara G, Magnani M, Beutler E: Molecular analysis of G6PD variants in northern Italy: A study on the population from the Ferrara district. Hum Genet 92:139, 1993
35. Viglietto G, Montanaro V, Calabro V, Vallone D, D'Urso M, Persico MG, Battistuzzi G: Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: Biochemical and molecular characterization. Ann Hum Genet 54:1, 1990
36. Beutler E, Westwood B, Prchal JT, Vaca G, Bartsocas CS, Baronciani L: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood 80:255, 1992
37. Rovira A, Vulliamy TJ, Pujades A, Luzzatto L, Vives Corrons J-L: The glucose-6-phosphate dehydrogenase (G6PD) deficiency variant G6PD Union (454 Arg→Cys) has a worldwide distribution possibly due to recurrent mutation. Hum Mol Genet 3:833, 1994
38. 1361A. Am J Hum Genet 47:575, 1990