Literature DB >> 12850494

Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6-PD variants.

Gerardo Vaca1, Eliakym Arámbula, Alejandro Monsalvo, Claudina Medina, Cristina Nuñez, Lucila Sandoval, Beatriz López-Guido.   

Abstract

Screening for mutations at the G-6-PD gene by PCR-SSCP combined with restriction enzyme analysis and DNA sequencing was performed in nine G-6-PD deficient individuals with negative results for the presence of the most frequent G-6-PD mutations previously observed in Mexican population. The variants G-6-PD Valladolid(406T), G-6-PD Durham(713G), and G-6-PD Viangchan(871A) and four new G-6-PD mutant alleles were identified. The new mutations are located at cDNA nt 376 A --> T (126 Asn --> Tyr), nt 770 G --> T (257 Arg --> Leu), nt 1094 G --> A (365 Arg --> His), and nt 1285 A --> G (429 Lys --> Glu) and they were named G-6-PD San Luis Potosi, G-6-PD Zacatecas, G-6-PD Veracruz, and G-6-PD Yucatán, respectively. To date, a total of 18 different G-6-PD variants have been observed in Mexico and several of them are common in Africa, South Europe, and Southeast Asia.

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Year:  2003        PMID: 12850494     DOI: 10.1016/s1079-9796(03)00119-0

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN: 1079-9796            Impact factor:   3.039


  12 in total

1.  Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature.

Authors:  Gladys Cossio de Gurrola; Juan José Araúz; Elfilda Durán; Maribel Aguilar-Medina; Rosalío Ramos-Payán; Noemí García-Magallanes; Gerardo Vaca Pacheco; Eliakym Arámbula Meraz
Journal:  J Med Case Rep       Date:  2008-05-06

2.  Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar.

Authors:  Issarang Nuchprayoon; Chalisa Louicharoen; Warisa Charoenvej
Journal:  J Hum Genet       Date:  2007-11-28       Impact factor: 3.172

3.  A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil.

Authors:  Raimundo Antonio G Oliveira; Marilena Oshiro; Mario H Hirata; Rosario D C Hirata; Georgina S Ribeiro; Tereza M D Medeiros; Orlando C de O Barretto
Journal:  Genet Mol Biol       Date:  2009-06-01       Impact factor: 1.771

Review 4.  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

5.  The stability of G6PD is affected by mutations with different clinical phenotypes.

Authors:  Saúl Gómez-Manzo; Jessica Terrón-Hernández; Ignacio De la Mora-De la Mora; Abigail González-Valdez; Jaime Marcial-Quino; Itzhel García-Torres; America Vanoye-Carlo; Gabriel López-Velázquez; Gloria Hernández-Alcántara; Jesús Oria-Hernández; Horacio Reyes-Vivas; Sergio Enríquez-Flores
Journal:  Int J Mol Sci       Date:  2014-11-17       Impact factor: 5.923

Review 6.  Diagnostic approaches for inherited hemolytic anemia in the genetic era.

Authors:  Yonggoo Kim; Joonhong Park; Myungshin Kim
Journal:  Blood Res       Date:  2017-06-22

7.  Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency.

Authors:  Jaewoong Lee; Joonhong Park; Hayoung Choi; Jiyeon Kim; Ahlm Kwon; Woori Jang; Hyojin Chae; Myungshin Kim; Yonggoo Kim; Jae Wook Lee; Nack Gyun Chung; Bin Cho
Journal:  Ann Lab Med       Date:  2017-03       Impact factor: 3.464

8.  Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan.

Authors:  Saúl Gómez-Manzo; Jaime Marcial-Quino; America Vanoye-Carlo; Hugo Serrano-Posada; Abigail González-Valdez; Víctor Martínez-Rosas; Beatriz Hernández-Ochoa; Edgar Sierra-Palacios; Rosa Angélica Castillo-Rodríguez; Miguel Cuevas-Cruz; Eduardo Rodríguez-Bustamante; Roberto Arreguin-Espinosa
Journal:  Int J Mol Sci       Date:  2016-05-21       Impact factor: 5.923

9.  Mutations of Glucose-6-Phosphate Dehydrogenase Durham, Santa-Maria and A+ Variants Are Associated with Loss Functional and Structural Stability of the Protein.

Authors:  Saúl Gómez-Manzo; Jaime Marcial-Quino; America Vanoye-Carlo; Sergio Enríquez-Flores; Ignacio De la Mora-De la Mora; Abigail González-Valdez; Itzhel García-Torres; Víctor Martínez-Rosas; Edgar Sierra-Palacios; Fernando Lazcano-Pérez; Eduardo Rodríguez-Bustamante; Roberto Arreguin-Espinosa
Journal:  Int J Mol Sci       Date:  2015-12-02       Impact factor: 5.923

Review 10.  Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.

Authors:  Saúl Gómez-Manzo; Jaime Marcial-Quino; America Vanoye-Carlo; Hugo Serrano-Posada; Daniel Ortega-Cuellar; Abigail González-Valdez; Rosa Angélica Castillo-Rodríguez; Beatriz Hernández-Ochoa; Edgar Sierra-Palacios; Eduardo Rodríguez-Bustamante; Roberto Arreguin-Espinosa
Journal:  Int J Mol Sci       Date:  2016-12-09       Impact factor: 5.923

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