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Am J Hum Genet. Dec 1990; 47(6): 1008–1012.
PMCID: PMC1683912

The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.


A polymorphic site exists in exon 11 of G6PD: in the wild-type enzyme, nucleotide (NT) 1311 is a C, but is some individuals from diverse populations a T is present instead. Nine of 54 X chromosomes from Europeans of mixed origins, nine of 41 X chromosomes of Ashkenazi Jewish subjects, three of 18 X chromosomes of Sicilians, five of 20 African X chromosomes, and nine of 20 Asian Indian X chromosomes had the mutant genotype. In contrast, the mutation was found in only three of 59 Oriental X chromosomes and in three of 30 Central/South American X chromosomes. The mutation was absent from four samples of chimpanzee DNA. Twenty-one of 22 male subjects from Mediterranean countries who had the G6PD Mediterranean 563T genotype investigated in the present study or reported previously had a T at NT 1311. Only one had the normal C at NT 1311. In contrast, both G6PD Mediterranean563T males from the Indian subcontinent had the normal C at NT 1311. These findings suggest that the same mutation at nucleotide 563 giving rise to G6PD Mediterranean may have arisen independently in Europe and in Asia.

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Selected References

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  • Beutler E. The genetics of glucose-6-phosphate dehydrogenase deficiency. Semin Hematol. 1990 Apr;27(2):137–164. [PubMed]
  • Beutler E, Kuhl W. Linkage between a PvuII restriction fragment length polymorphism and G6PD A-202A/376G: evidence for a single origin of the common G6PD A- mutation. Hum Genet. 1990 Jun;85(1):9–11. [PubMed]
  • De Vita G, Alcalay M, Sampietro M, Cappelini MD, Fiorelli G, Toniolo D. Two point mutations are responsible for G6PD polymorphism in Sardinia. Am J Hum Genet. 1989 Feb;44(2):233–240. [PMC free article] [PubMed]
  • D'Urso M, Luzzatto L, Perroni L, Ciccodicola A, Gentile G, Peluso I, Persico MG, Pizzella T, Toniolo D, Vulliamy TJ. 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. 1988 May;42(5):735–741. [PMC free article] [PubMed]
  • Fey MF, Wainscoat JS, Mukwala EC, Falusi AG, Vulliamy TJ, Luzzatto L. A PvuII restriction fragment length polymorphism of the glucose-6-phosphate dehydrogenase gene is an African-specific marker. Hum Genet. 1990 Apr;84(5):471–472. [PubMed]
  • Martini G, Toniolo D, Vulliamy T, Luzzatto L, Dono R, Viglietto G, Paonessa G, D'Urso M, Persico MG. Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase. EMBO J. 1986 Aug;5(8):1849–1855. [PMC free article] [PubMed]
  • Persico MG, Viglietto G, Martini G, Toniolo D, Paonessa G, Moscatelli C, Dono R, Vulliamy T, Luzzatto L, D'Urso M. Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region. Nucleic Acids Res. 1986 Mar 25;14(6):2511–2522. [PMC free article] [PubMed]
  • Prchal JT, Crist WM, Malluh A, Vitek A, Tauxe WN, Carroll AJ. A new glucose-6-phosphate dehydrogenase deficient variant in a patient with Chediak-Higashi syndrome. Blood. 1980 Sep;56(3):476–480. [PubMed]
  • Takizawa T, Huang IY, Ikuta T, Yoshida A. Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning. Proc Natl Acad Sci U S A. 1986 Jun;83(12):4157–4161. [PMC free article] [PubMed]
  • Viglietto G, Montanaro V, Calabrò V, Vallone D, D'Urso M, Persico MG, Battistuzzi G. Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization. Ann Hum Genet. 1990 Jan;54(Pt 1):1–15. [PubMed]
  • Vives-Corrons JL, Kuhl W, Pujades MA, Beutler E. Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A. Am J Hum Genet. 1990 Sep;47(3):575–579. [PMC free article] [PubMed]
  • Vulliamy TJ, D'Urso M, Battistuzzi G, Estrada M, Foulkes NS, Martini G, Calabro V, Poggi V, Giordano R, Town M, et al. Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc Natl Acad Sci U S A. 1988 Jul;85(14):5171–5175. [PMC free article] [PubMed]
  • Yoshida A, Takizawa T, Prchal JT. RFLP of the X chromosome-linked glucose-6-phosphate dehydrogenase locus in blacks. Am J Hum Genet. 1988 Jun;42(6):872–876. [PMC free article] [PubMed]

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