G6PD sumare: A novel mutation in the G6PD gene (1292 T →G) associated with chronic nonspherocyfic anemia

Human Mutation

Volumn 10, Issue 3, 1997, Pages 245-247

  Saad, Sara T O ^a   Salles, Tereza S I ^a   Arruda, Valder R ^a   Sonati, M Fatima ^a   Costa, Fernando F ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; DNA; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GUANINE; HEMOGLOBIN; NUCLEOTIDE; THYMINE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE SUMARE; GLUCOSE-6-PHOSPHATE DEHYDROGENASE SUMARE;

ADULT; ANEMIA; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; BLOOD; BRAZIL; ENZYMOLOGY; GENETICS; HEREDITARY HEMOLYTIC ANEMIA; POINT MUTATION;

ADULT; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; BRAZIL; GLUCOSEPHOSPHATE DEHYDROGENASE; HAPLOTYPES; HUMANS; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 0030612649     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1997)10:3<245::aid-humu13>3.3.co;2-p     Document Type: Article

References (8)

1. Beutler E (1975) Red cell metabolism. In: A Manual of Biochemical Methods, 2nd ed. Grune & Stratton.
2. Beutler E (1991) Glucose-6-phosphate dehydrogenase deficiency. N Engl J Med 324:169-174.
3. Beutler E (1992) The molecular biology of G6PD variants and other red cell enzyme defects. Annu Rev Med 43:47-59.
4. Beutler E (1994) G6PD deficiency. Blood 84:3613-3636.
5. Beutler E, Kuhl W (1990) The NT 1311 Polymorphism of G-6-PD Mediterranean mutation may originated independently in Europe and Asia. Hum Genet 47:1008-1012.
6. D'Urso M, Luzzatto L, Perroni L, Ciccodicola A, Gentile G, Peluso I, Persico MG, Pizzella T, Toniolo D, Vulliamy TJ (1988) An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus revealed a silent mutation in the coding sequence. Am J Hum Genet 42:735-741.
7. Fey MF, Wainscoat JS, Mukwala EC, Falusi AC, Vulliamy TJ, Luzzato L (1993) A Pvu II restriction fragment length polymorphism of the glucose-6-phosphate dehydrogenase gene is an African-specific marker. Hum Genet 84:471-472.
8. Jeffery J, Persson B, Wood I, Bergman T Jeffery R, Jörnvall H (1993) Glucose-6-phosphate dehydrogenase: Structure-function relationships and the Pichia Jadinii enzyme structure. Eur J Biochem 212:41-49.