Literature DB >> 7129446

G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia.

G Vaca, B Ibarra, F Romero, N Olivares, J M Cantú, E Beutler.   

Abstract

This paper describes a new G-6-PD variant designated Guadalajara, which was found in a Mexican boy suffering from chronic hemolytic anemia. The red cell enzyme activity of the subject is about 14%. The mutant enzyme showed rapid electrophoretic mobility, slightly increased affinity for glucose-6-phosphate, slightly decreased affinity for NADP+, moderately elevated utilization of substrate analogues, and normal heat stability, pH curve, and inhibition by NADPH. G-6-PD Guadalajara differs from all previously reported variants and is the first variant associated with chronic hemolysis found in Mexico.

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Year:  1982        PMID: 7129446     DOI: 10.1007/bf00274214

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


  20 in total

1.  Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation.

Authors:  E Beutler; A Yoshida
Journal:  Ann Hum Genet       Date:  1973-10       Impact factor: 1.670

2.  Glucose-6-phosphate dehydrogenase Mexico. A new variant with enzyme deficiency, abnormal mobility, and absence of hemolysis.

Authors:  R Lisker; C Linares; A G Motulsky
Journal:  J Lab Clin Med       Date:  1972-05

3.  Detection of glucose-phosphate isomerase deficiency by a screening procedure.

Authors:  K G Blume; E Beutler
Journal:  Blood       Date:  1972-05       Impact factor: 22.113

4.  Human glucose-6-phosphate dehydrogenase variants.

Authors:  A Yoshida; E Beutler; A G Motulsky
Journal:  Bull World Health Organ       Date:  1971       Impact factor: 9.408

5.  Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease.

Authors:  E Beutler; C K Mathai; J E Smith
Journal:  Blood       Date:  1968-02       Impact factor: 22.113

6.  [Federal District glucose-6-phosphate dehydrogenase Gd(-). A new variant associated with moderate enzyme deficiency and occasional hemolytic anemia].

Authors:  R Lisker; R Pérez-Briceño; V Ravé; A Yoshida
Journal:  Rev Invest Clin       Date:  1981 Apr-Jun       Impact factor: 1.451

7.  A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia.

Authors:  R Lisker; R P Briceno; L Agrilar; A Yoshida
Journal:  Hum Genet       Date:  1978-07-12       Impact factor: 4.132

8.  A simple screening procedure for glucose phosphate isomerase, phosphofructokinase, aldolase and glyceraldehyde-3-phosphate dehydrogenase deficiencies.

Authors:  G Vaca; C Medina; C Wunsch; D Garcia-Cruz; J Sanchez-Corona; G Gonzalez-Quiroga; J M Cantu
Journal:  Ann Genet       Date:  1981

9.  A simple screening procedure for adenylate kinase, hexokinase and glucose-6-phosphate dehydrogenase deficiencies.

Authors:  G Vaca; J Sanchez-Corona; N Olivares; C Medina; J M Cantu
Journal:  Ann Genet       Date:  1980

10.  Hemolytic anemia and G6PD deficiency.

Authors:  A Yoshida
Journal:  Science       Date:  1973-02-09       Impact factor: 47.728

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  6 in total

1.  Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.

Authors:  S Filosa; N Giacometti; C Wangwei; D De Mattia; D Pagnini; F Alfinito; F Schettini; L Luzzatto; G Martini
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

2.  G-6-PD Jalisco and G-6-PD Morelia: two new Mexican variants.

Authors:  G Vaca; B Ibarra; D García Cruz; C Medina; F Romero; J M Cantú; E Beutler
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  A new glucose-6-phosphate dehydrogenase variant, Gd(-) Tepic, characterized by moderate enzyme deficiency and mild episodes of hemolytic anemia.

Authors:  R Lisker; R Pérez-Briceño; E Beutler
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

Review 4.  Clinical complications of G6PD deficiency in Latin American and Caribbean populations: systematic review and implications for malaria elimination programmes.

Authors:  Wuelton M Monteiro; Gabriel P Franca; Gisely C Melo; Amanda L M Queiroz; Marcelo Brito; Henry M Peixoto; Maria Regina F Oliveira; Gustavo A S Romero; Quique Bassat; Marcus V G Lacerda
Journal:  Malar J       Date:  2014-02-25       Impact factor: 2.979

Review 5.  G6PD deficiency in Latin America: systematic review on prevalence and variants.

Authors:  Wuelton M Monteiro; Fernando F A Val; André M Siqueira; Gabriel P Franca; Vanderson S Sampaio; Gisely C Melo; Anne C G Almeida; Marcelo A M Brito; Henry M Peixoto; Douglas Fuller; Quique Bassat; Gustavo A S Romero; Oliveira Maria Regina F; Lacerda Marcus Vinícius G
Journal:  Mem Inst Oswaldo Cruz       Date:  2014-08-19       Impact factor: 2.743

6.  Effects of Single and Double Mutants in Human Glucose-6-Phosphate Dehydrogenase Variants Present in the Mexican Population: Biochemical and Structural Analysis.

Authors:  Víctor Martínez-Rosas; Merit Valeria Juárez-Cruz; Edson Jiovany Ramírez-Nava; Beatriz Hernández-Ochoa; Laura Morales-Luna; Abigail González-Valdez; Hugo Serrano-Posada; Noemí Cárdenas-Rodríguez; Paulina Ortiz-Ramírez; Sara Centeno-Leija; Roberto Arreguin-Espinosa; Miguel Cuevas-Cruz; Daniel Ortega-Cuellar; Verónica Pérez de la Cruz; Luz María Rocha-Ramírez; Edgar Sierra-Palacios; Rosa Angélica Castillo-Rodríguez; Isabel Baeza-Ramírez; Jaime Marcial-Quino; Saúl Gómez-Manzo
Journal:  Int J Mol Sci       Date:  2020-04-15       Impact factor: 5.923

  6 in total

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