Literature DB >> 8100211

Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehydrogenase variants in Japan.

A Hirono1, H Fujii, S Miwa.   

Abstract

G6PD Konan and G6PD Ube are the most common glucose-6-phosphate dehydrogenase (G6PD) variants found in Japan. To clarify the molecular abnormality of these two variants, the entire coding region was amplified by polymerase chain reaction from genomic DNA (G6PD Konan) or cDNA (G6PD Ube). Direct sequencing revealed that both variants have the same nucleotide substitution (241 C to T) in exon 4, which predicts an Arg to Cys substitution at amino acid 81.

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Year:  1993        PMID： 8100211     DOI： 10.1007/bf00217781

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

Review 1.  Glucose-6-phosphate dehydrogenase deficiency.

Authors:  E Beutler
Journal:  N Engl J Med       Date:  1991-01-17       Impact factor: 91.245

2.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

3.  G6PD Ube, a glucose-6-phosphate dehydrogenase variant found in four unrelated Japanese families.

Authors:  K Nakashima; J Ono; S Abe; S Miwa; A Yoshida
Journal:  Am J Hum Genet       Date:  1977-01       Impact factor: 11.025

4.  Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region.

Authors:  M G Persico; G Viglietto; G Martini; D Toniolo; G Paonessa; C Moscatelli; R Dono; T Vulliamy; L Luzzatto; M D'Urso
Journal:  Nucleic Acids Res       Date:  1986-03-25       Impact factor: 16.971

5.  cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia.

Authors:  H Kanno; H Fujii; A Hirono; S Miwa
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-15       Impact factor: 11.205

6.  Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia.

Authors:  A Hirono; H Fujii; K Hirono; H Kanno; S Miwa
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

7.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

8.  Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-).

Authors:  A Hirono; E Beutler
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

9.  Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

Authors:  T J Vulliamy; M D'Urso; G Battistuzzi; M Estrada; N S Foulkes; G Martini; V Calabro; V Poggi; R Giordano; M Town
Journal:  Proc Natl Acad Sci U S A       Date:  1988-07       Impact factor: 11.205

10.  Incidence and characteristics of glucose-6-phosphate dehydrogenase variants in Japan.

Authors:  T Nakatsuji; S Miwa
Journal:  Hum Genet       Date:  1979-10-02       Impact factor: 4.132
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