Literature DB >> 848857

Genetic variants of human erythrocyte glucose 6-phosphate dehydrogenase: new variants in West Africa characterized by column chromatography.

E A Usanga, U Bienzle, R Cancedda, F A Fasuan, O Ajayi, L Luzzatto.   

Abstract

Five electrophoretically slow-moving genetic variants of glucose 6-phosphate dehydrogenase are described: four are from Nigeria and one is from Togo. All variants have normal or moderately reduced activity, and they are not associated with adverse clinical or haematological manifestations. Three variants have been fully characterized and are different from all previously described ones. Two variants have been partially characterized and at least one of them is also probably new. The overall population incidence of sporadic variants of G6PD in the Nigerian population is 0-3%. In the course of this study a previously described ion-exchange chromatographic technique for the characterization of G6PD variants has been extensively evaluated. Data are given on ten different variants to demonstrate the high resolving power of this technique.

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Year:  1977        PMID： 848857     DOI： 10.1111/j.1469-1809.1977.tb00192.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


  8 in total

1.  A new variant of human erythrocyte G6PD occurring at a high frequency amongst the population of two villages in The Gambia, West Africa.

Authors:  S G Welch; I A McGregor; K Williams
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132

2.  G6PD Ciudad de la Habana: a new slow variant with deficiency found in a Cuban family.

Authors:  R González; M Estrada; M García; A Gutierrez
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

3.  Genetic heterogeneity of "normal" human erythrocyte glucose-6-phosphate dehydrogenase: an isoelectrophoretic polymorphism.

Authors:  G Modiano; G Battistuzzi; G J Esan; U Testa; L Luzzatto
Journal:  Proc Natl Acad Sci U S A       Date:  1979-02       Impact factor: 11.205

4.  G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.

Authors:  J Elizondo; G F Sáenz; C A Páez; M Ramón; M García; A Gutiérrez; M Estrada
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence.

Authors:  M D'Urso; L Luzzatto; L Perroni; A Ciccodicola; G Gentile; I Peluso; M G Persico; T Pizzella; D Toniolo; T J Vulliamy
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

6.  At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria.

Authors:  K Nafa; A Reghis; N Osmani; L Baghli; H Aït-Abbes; M Benabadji; J C Kaplan; T Vulliamy; L Luzzatto
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

7.  Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency in Sardinia.

Authors:  U Testa; T Meloni; A Lania; G Battistuzzi; S Cutillo; L Luzzatto
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  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
  8 in total

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