Molecular genetics of glucose-6-phosphate dehydrogenase deficiency in Mexico

Blood Cells, Molecules and Diseases

Volumn 23, Issue 1, 1997, Pages 88-94

  Medina, Maria Dolores ^a   Vaca, Gerardo ^a   Lopez Guido, Beatriz ^b   Westwood, Beryl ^c   Beutler, Ernest ^c  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^b HOSPITAL DE PEDIATRÍA   (Mexico)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Erythrocyte; G6PD; Population genetics

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ARTICLE; GENOTYPE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMOLYSIS; HUMAN; MEXICO; MOLECULAR GENETICS; POPULATION GENETICS; PRIORITY JOURNAL;

EID: 0030805704     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1997.0124     Document Type: Article

References (58)

1. Beutler E, Yoshida A. Genetic variation of glucose-6-phosphate dehydrogenase: a catalog and future prospects. Medicine. 67:1988;311-334.
2. Beutler E. Glucose-6-phosphate dehydrogenase deficiency and other enzyme abnormalities. Hematology. 1995;McGraw-Hill, New York. p. 564-.
3. Luzzatto L, Mehta A. Glucose-6-phosphate dehydrogenase deficiency. Scriver Ch R, Beaudet A L, Sly W S, Valle D. The Metabolic and Molecular Basis of Inherited Disease. 1995;3677-3398 McGraw-Hill, New York.
4. Beutler E. G-6-PD: Population genetics and clinical manifestations. Blood Reviews. 10:1996;45-52.
5. Beutler E, Vulliamy T, Luzzatto L. Hematologically important mutations: Glucose-6-phosphate dehydro-genase. Blood Cells Mol Dis. 22:1996;49-56.
6. D'Urso M D, Luzzatto L, Perroni L. An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence. Am J Hum Genet. 42:1988;735-741.
7. 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. 47:1990;1008-1012.
8. Kurdi-Haidar B, Mason P J, Berrebi A. Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD Mediterranean) in the Middle East. Am J Hum Genet. 47:1990;1013-1019.
9. -. Proc Natl Acad Sci USA. 88:1991;8568-8571.
10. Beutler E, Westwood B, Sipe B. A new polymorphic site in the G6PD gene. Hum Genet. 89:1992;485-486.
11. 202A/37G-. Hum Genet. 85:1990;9-11.
12. Kay A C, Kuhl W, Prchal J, Beutler E. The origin of glucose-6-phosphate dehydrogenase (G-6-PD) polymorphisms in African-Americans. Am J Hum Genet. 50:1992;394-398.
13. Filosa S, Calabro V, Lania G. G6PD haplotypes spanning Xq28 from F8C to red/green color vision. Genomics. 17:1993;6-14.
14. Curnutte J T, Hopkins P J, Kuhl W, Beutler E. Studying X inactivation. Lancet. 339:1992;749.
15. Prchal J T, Guan Y L, Prchal J F, Barany F. Transcriptional analysis of the active X-chromosome in normal and clonal hematopoiesis. Blood. 81:1993;269-271.
16. Lisker R, Loria A, Sanchez-Medal L. Estudios sobre algunas caracteristicas geneticas hematologicas de la costa chica de Oaxaca y Guerrero. Salud Pub (Mex). 7:1965;45.
17. Lisker R, Cordova M, Zarate G. Studies on several genetic hematological traits of the Mexican population. XVI. Hemoglobin S and G6PD deficiency in the East Coast. Am J Phys Anthrop. 30:1969;349-354.
18. Lisker R, Perez-Briceño R, Sosa R, Shein M. Aspectos hereditarios y epidemiologicos de la deficiencia de glucosa-6-fosfato deshidrogenasa eritrocitica en Mexico. Gac Med Mex. 111:1976;454-458.
19. Vaca G, Ibarra B, Hernandez A. Screening for inborn errors of the erythrocyte metabolism in Northwestern Mexico. Acta Anthrop. 6:1982;255-264.
20. Gonzalez-Quiroga G, Ramirez del Rio J L, Cerda Flores R M, Garza Chapa R. Frequency and origin of G-6-PD deficiency among icteric newborns in the metropolitan area of Monterrey, Nuevo Leon, Mexico. Gene Geography. 8:1994;157-164.
21. Betke K, Beutler E, Brewer G J. Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO scientific group. WHO Tech Rep Ser No. 366. 1967.
22. Lisker R, Linares C, Motulsky A. Glucose-6-phosphate dehydrogenase Mexico. A new variant with enzyme deficiency, abnormal mobility and absence of hemolysis. J Lab Clin Med. 79:1972;788-793.
23. Lisker R, Briceño R P, Aguilar L. A variant glucose-6-phosphate dehydrogenase Gd (-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia. Hum Genet. 43:1978;81-84.
24. Lisker R, Briceño R P, Zavala C. A glucose-6-phosphate dehydrogenase Gd (-) Castilla variant characterized by mild deficiency associated with drug induced hemolytic anemia. J Lab Clin Med. 90:1977;754-759.
25. Lisker R, Perez-Briceño R, Beutler E. A new glucose-6-phosphate dehydrogenase variant, Gd (-) Tepic, characterized by moderate enzyme deficiency and mild episodes of hemolytic anemia. Hum Genet. 69:1985;19-21.
26. Lisker R, Perez-Briceño R, Rave V. Glucosa-6-fosfato deshidrogenasa Gd (-) Distrito Federal. Nueva variante asociada a deficiencia enzimatica moderada y anemia hemolitica ocasional. Rev Invest Clin. 33:1981;209-211.
27. Vaca G, Ibarra B, Romero F, Olivares N, Cantu J M, Beutler E. G6PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia. Hum Genet. 61:1982;175-176.
28. Vaca G, Ibarra B, Garcia-Cruz D. G-6-PD Jalisco and G-6-PD Morelia: two new Mexican variants. Hum Genet. 71:1985;82-85.
29. Vaca G, Ibarra B, Hernandez A. Glucose-6-phosphate dehydrogenase deficiency and abnormal hemoglobins in Mexican newborns with jaundice. Rev Invest Clin. 33:1981;259-261.
30. Beutler E, Kuhl W, Ramirez E, Lisker R. Some Mexican glucose-6-phosphate dehydrogenase variants revisited. Hum Genet. 86:1991;371-374.
31. Beutler E, Westwood B, Prchal J T, Vaca G, Bartsocas C S, Baronciani L. New glucose-6-phosphate dehydrogenase (G-6-PD) mutations from various ethnic groups. Blood. 80:1992;255-256.
32. Medina M D, Vaca G, Esparza A, Westwood B, Beutler E. Molecular heterogeneity of G-6-PD deficiency in Mexico. Arch Med Res. 26:1995;111-113.
33. Beutler E. Red Cell Metabolism. A Manual of Biochemical Methods. 1975;Grune & Stratton, New York. p. 66-69.
34. Sparkes R S, Baluda M C, Townsed D E. Cellulose acetate electrophoresis of human glucose-6-phosphate dehydrogenase. J Lab Clin Med. 73:1969;531-534.
35. Sambrook J, Fritsch E F, Maniatis T. Molecular cloning: a laboratory manual. 1989.
36. -. Blood. 74:1989;2550-2555.
37. Xu W, Westwood B, Bartsocas C S, Malcorra-Azpiazu J J, Indrak K, Beutler E. Glucose-6-phosphate dehydrogenase mutations and haplotypes in various ethnic groups. Blood. 85:1995;257-263.
38. Nafa K, Reghis A, Osmani N. At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria. Hum Genet. 94:1994;513-517.
39. Beutler E, Kuhl W, Saenz G F, Rodriguez W. Mutation analysis of glucose-6-phosphate dehydro-genase (G6PD) variants in Costa Rica. Hum Genet. 87:1991;462-464.
40. -. Hum Genet. 93:1994;139-142.
41. Vives-Corrons J L, Rovira A, Pujades M A, Estrada M, Vulliamy T J. Diverse point mutations of glucose-6-phosphate dehydrogenase (G-6-PD) gene in Spanish and Cuban patients with hemolytic anemia. Rev Invest Clin. 46:1994;234a.
42. Hirono A, Beutler E. Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A (-). Proc Natl Acad Sci USA. 85:1988;3951-3954.
43. Lisker R. Estructura genetica de la poblacion mexicana. Aspectos medicos y antropologicos. 1981;Salvat Mexicana de Ediciones. p. 97-.
44. Llorden M. Acerca de las migraciones centroeuropeas y mediterraneas a Iberoamerica: aspectos sociales y culturales. 1995;Universidad de Oviedo.
45. Bernard C, Gruzinski S. Historia del Nuevo Mundo. Del Descubrimiento a la Conquista. La experiencia europea, 1492-1550. 1996;Fondo de Cultura Economica.
46. Rovira A, Vives-Corrons J L, Estrada M. Identificacion de variantes moleculares de la enzima glucosa-6-fosfato deshidrogenasa (G-6-PD) mediante la tecnica de la reaccion en cadena de la polimerasa (PCR). Medicina Clinica. 102:1994;281-284.
47. De Vita G, Alcalay M, Sampietro M, Capellini M D, Fiorelli G, Toniolo D. Two point mutations are responsible for G-6-PD polymorphism in Sardinia. Am J Hum Genet. 44:1989;233-240.
48. Calabro V, Mason P J, Filosa S. Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis. Am J Hum Genet. 52:1993;527-536.
49. Cabrera V M, Gonzalez P, Salo W L. Human enzyme polymorphism in the Canary Islands. Hum Hered. 46:1996;197-200.
50. Weimer T A, Salzano F M, Westwood B, Beutler E. Molecular characterization of glucose-6-phosphate dehydrogenase variants from Brazil. Human Biology. 65:1993;41-47.
51. 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 conformational polymorphism analysis. Blood. 83:1994;3363-3368.
52. Ogha E, Higashi E, Nomura A. Haptoglobin therapy for acute favism: a Japanese boy with Glucose-6-phosphate dehydrogenase Guadalajara. Brit J Haematol. 89:1995;421-423.
53. Mason P J, Sonati M F, MacDonald D. New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. Blood. 85:1995;1377-1380.
54. Vives-Corrons J L, Pujades A. Heterogeneity of Mediterranean type glucose-6-phosphate dehydro-genase (G6PD) deficiency in Spain: a description of two new variants associated with favism. Hum Genet. 60:1982;216-221.
55. Vives-Corrons J L. La biologia molecular del deficit de glucosa-6-fosfato deshidrogenasa. Sangre. 31:1991;149-152.
56. Rovira A, Vulliamy T J, Pujades A, Luzzatto L, Vives-Corrons J L. Glucose-6-phosphate dehydro-genase (G6PD) deficient variant G6PD Union (454 Arg→Cys) has a worlwide distribution possible due to recurrent mutation. Hum Mol Genet. 3:1994;833-835.
57. Rovira A, Vulliamy T, Pujades M A, Luzzatto L, Vives-Corrons J L. Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene. Brit J Haematol. 91:1995;66-71.
58. 1361A. Am J Hum Genet. 47:1990;575-579.