Molecular studies reveal a concordant KEL genotyping between patients with hemoglobinopathies and blood donors in Sao Paulo City, Brazil.

نویسندگان

  • Edmir Boturão-Neto
  • Akemi K Chiba
  • Perla Vicari
  • Maria S Figueiredo
  • José O Bordin
چکیده

1. Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Pyruvate kinase deficiency: The genotype-phenotype association. Blood Rev 2007;12:12. 2. Van Wijk R, Van Solinge WW, Nerlov C, Beutler E, Gelbart T, Rijksen G, et al. Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency. Blood 2003;101:1596-602. 3. Manco L, Abade A. Pyruvate kinase deficiency: prevalence of the 1456C-->T mutation in the Portuguese population. Clin Genet 2001;60:472-3. 4. Pissard S, Max-Audit I, Skopinski L, Vasson A, Vivien P, Bimet C, et al. Pyruvate kinase deficiency in France: a 3year study reveals 27 new mutations. Br J Haematol 2006;133:683-9. 5. Wingender E, Chen X, Hehl R, Karas H, Liebich I, Matys V, et al. TRANSFAC: an integrated system for gene expression regulation. Nucleic Acids Res 2000;28:316-9. 6. Knight JC. Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation. Clin Sci (Lond) 2003;104:493-501. 7. de Vooght KMK, van Wijk R, Ploos van Amstel HK, van Solinge WW. Characterization of the -16C>G sequence variation in the promoters of both HBG1 and HBG2: Convergent evolution of the human γ-globin genes. Blood Cells Mol Dis 2007;39:70-4. 8. Morse EE, Jilani F, Brassel J. Acquired pyruvate kinase deficiency. Ann Clin Lab Sci 1977;7:399-404. 9. Lacronique V, Lopez S, Miquerol L, Porteu A, Kahn A, Raymondjean M. Identification and functional characterization of an erythroid-specific enhancer in the L-type pyruvate kinase gene. J Biol Chem 1995;270:14989-97. 10. van Wijk R, van Wesel AC, Thomas AA, Rijksen G, van Solinge WW. Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency. Br J Haematol 2004;125:253-63. Molecular studies reveal a concordant KEL genotyping between patients with hemoglobinopathies and blood donors in São Paulo City, Brazil

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عنوان ژورنال:
  • Haematologica

دوره 93 9  شماره 

صفحات  -

تاریخ انتشار 2008