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Volumn 33, Issue 1, 2004, Pages 25-30

Molecular characterization of G6PD deficiency in Cyprus

Author keywords

Cyprus; G6PD deficiency; G6PD mutations

Indexed keywords

ALANINE; ARGININE; HISTIDINE; PHENYLALANINE; PROLINE; SERINE; THREONINE;

EID: 3042605046     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2004.03.004     Document Type: Article
Times cited : (21)

References (43)
  • 2
    • 0027436693 scopus 로고
    • G6PD deficiency as protection against falciparum malaria: An epidemiologic critique of population and experimental studies
    • Greene L.S. G6PD deficiency as protection against falciparum malaria: an epidemiologic critique of population and experimental studies. Yearb. Phys. Anthropol. 17(Suppl. 36):1993;153
    • (1993) Yearb. Phys. Anthropol. , vol.17 , Issue.SUPPL. 36 , pp. 153
    • Greene, L.S.1
  • 3
    • 0029076429 scopus 로고
    • Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria
    • Ruwende C., Khoo S.C., Snow R.W. Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature. 376:1995;246-249
    • (1995) Nature , vol.376 , pp. 246-249
    • Ruwende, C.1    Khoo, S.C.2    Snow, R.W.3
  • 6
    • 0036963687 scopus 로고    scopus 로고
    • Nucleotide variability at G6PD and the signature of malarial selection in humans
    • Saunders M.A., Hammer M.F., Nachman M.W. Nucleotide variability at G6PD and the signature of malarial selection in humans. Genetics. 162:2002;1849-1861
    • (2002) Genetics , vol.162 , pp. 1849-1861
    • Saunders, M.A.1    Hammer, M.F.2    Nachman, M.W.3
  • 8
    • 0027940492 scopus 로고
    • G6PD deficiency (review article)
    • Beutler E. G6PD deficiency (review article). Blood. 84:1994;3613-3636
    • (1994) Blood , vol.84 , pp. 3613-3636
    • Beutler, E.1
  • 11
    • 0036306730 scopus 로고    scopus 로고
    • Hematologically important mutations: Glucose-6-phosphate dehydrogenase
    • Beutler E., Vulliamy T.J. Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells, Mol. Dis. 28(2):2002;93-103
    • (2002) Blood Cells, Mol. Dis. , vol.28 , Issue.2 , pp. 93-103
    • Beutler, E.1    Vulliamy, T.J.2
  • 12
    • 0025763140 scopus 로고
    • DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants
    • Beutler E., Kuhl W., Gelbart T., Forman L. DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. J. Biol. Chem. 206:1991;4145-4150
    • (1991) J. Biol. Chem. , vol.206 , pp. 4145-4150
    • Beutler, E.1    Kuhl, W.2    Gelbart, T.3    Forman, L.4
  • 13
    • 0004497053 scopus 로고
    • Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-)
    • Hirono A., Beutler E. Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). Proc. Natl. Acad. Sci. U. S. A. 85:1988;3951-3954
    • (1988) Proc. Natl. Acad. Sci. U. S. A. , vol.85 , pp. 3951-3954
    • Hirono, A.1    Beutler, E.2
  • 15
    • 0031213525 scopus 로고    scopus 로고
    • Haematologically important mutations: Glucose-6-phosphate-dehydrogenase
    • Vulliamy T., Luzzatto C., Hirono A., Beutler E. Haematologically important mutations: glucose-6-phosphate-dehydrogenase. Blood Cells, Mol. Dis. 23:1997;302-313
    • (1997) Blood Cells, Mol. Dis. , vol.23 , pp. 302-313
    • Vulliamy, T.1    Luzzatto, C.2    Hirono, A.3    Beutler, E.4
  • 16
    • 0015927590 scopus 로고
    • Mediterranean anaemia in antiquity
    • Waldron H.A. Mediterranean anaemia in antiquity. Br. Med. J. 2(867):1973;667
    • (1973) Br. Med. J. , vol.2 , Issue.867 , pp. 667
    • Waldron, H.A.1
  • 17
    • 1342336168 scopus 로고
    • Glucose-6-phosphate dehydrogenase activity in Greece
    • Zannos-Mariolea L., Kattamis C. Glucose-6-phosphate dehydrogenase activity in Greece. Blood. 18:1961;34-47
    • (1961) Blood , vol.18 , pp. 34-47
    • Zannos-Mariolea, L.1    Kattamis, C.2
  • 18
    • 0004483367 scopus 로고
    • Studies on the distribution of glucose-6-phosphate dehydrogenase deficiency, thalassaemia and other genetic traits in the coastal and mountain villages of Cyprus
    • Plato C.C., Rucknagel D.L., Gershowitz H. Studies on the distribution of glucose-6-phosphate dehydrogenase deficiency, thalassaemia and other genetic traits in the coastal and mountain villages of Cyprus. Am. J. Hum. Genet. 16:1964;267-283
    • (1964) Am. J. Hum. Genet. , vol.16 , pp. 267-283
    • Plato, C.C.1    Rucknagel, D.L.2    Gershowitz, H.3
  • 19
    • 84970805317 scopus 로고
    • β-thalassaemia, G-6-PD deficiency and atypical cholinesterase in Cyprus
    • Kattamis Ch., Haidas S., Metaxotou-Mavromatti A., Matsaniotis N. β-thalassaemia, G-6-PD deficiency and atypical cholinesterase in Cyprus. Br. Med. J. 3(824):1972;470-471
    • (1972) Br. Med. J. , vol.3 , Issue.824 , pp. 470-471
    • Kattamis, Ch.1    Haidas, S.2    Metaxotou-Mavromatti, A.3    Matsaniotis, N.4
  • 21
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 22
    • 0019356937 scopus 로고
    • The interference of leukocytes and platelets with the measurement of glucose-6-phosphate dehydrogenase activity of erythrocytes with low activity variants of the enzyme
    • Morelli A., Benatti U., Lenzerini L., Sparatore B., Salamino F., Melloni E., Michetti M., Pontremoli S., De Flora A. The interference of leukocytes and platelets with the measurement of glucose-6-phosphate dehydrogenase activity of erythrocytes with low activity variants of the enzyme. Blood. 58:1981;642-644
    • (1981) Blood , vol.58 , pp. 642-644
    • Morelli, A.1    Benatti, U.2    Lenzerini, L.3    Sparatore, B.4    Salamino, F.5    Melloni, E.6    Michetti, M.7    Pontremoli, S.8    De Flora, A.9
  • 23
    • 0034030543 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency neonatal screening: Preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening
    • Reclos G.J., Hatzidakis C.J., Schulpis K.H. Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening. J. Med. Screen. 7:2000;46-51
    • (2000) J. Med. Screen. , vol.7 , pp. 46-51
    • Reclos, G.J.1    Hatzidakis, C.J.2    Schulpis, K.H.3
  • 26
    • 0343150007 scopus 로고    scopus 로고
    • Screening of G6PD Mediterranean mutation causing to severe glucose-6-phosphate dehydrogenase deficiency in Turkish population (abstract)
    • Terzioglu O., Uzunoglu S., Vulliamy T. Screening of G6PD Mediterranean mutation causing to severe glucose-6-phosphate dehydrogenase deficiency in Turkish population (abstract). Eur. J. Hum. Genet. 4(Suppl. 1):1996;66
    • (1996) Eur. J. Hum. Genet. , vol.4 , Issue.SUPPL. 1 , pp. 66
    • Terzioglu, O.1    Uzunoglu, S.2    Vulliamy, T.3
  • 27
    • 0034033063 scopus 로고    scopus 로고
    • Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Turkey
    • Oner R., Gümrük F., Acar C., Oner C., Gürgey A., Altay C. Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Turkey. Haematologica. 85:2000;320-321
    • (2000) Haematologica , vol.85 , pp. 320-321
    • Oner, R.1    Gümrük, F.2    Acar, C.3    Oner, C.4    Gürgey, A.5    Altay, C.6
  • 28
    • 0031452119 scopus 로고    scopus 로고
    • Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy
    • diMontemuros F.M., Dotti C., Tavazzi D., Fiorelli G., Cappellini M.D. Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy. Hematologica. 82:1997;440-445
    • (1997) Hematologica , vol.82 , pp. 440-445
    • Dimontemuros, F.M.1    Dotti, C.2    Tavazzi, D.3    Fiorelli, G.4    Cappellini, M.D.5
  • 30
    • 8544284858 scopus 로고    scopus 로고
    • Molecular characterization of G6PD deficiency in Southern Italy: Heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis)
    • Alfinito F., Cimmino A., Ferraro F., Cubellis M.V., Vitagliano L., Francese M., Zagari A., Rotoli B., Filosa S., Martini G. Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis). Br. J. Haematol. 98:1997;41-46
    • (1997) Br. J. Haematol. , vol.98 , pp. 41-46
    • Alfinito, F.1    Cimmino, A.2    Ferraro, F.3    Cubellis, M.V.4    Vitagliano, L.5    Francese, M.6    Zagari, A.7    Rotoli, B.8    Filosa, S.9    Martini, G.10
  • 31
    • 0036304054 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency in Portugal: Biochemical and mutational profiles, heterogeneity, and haplotype association
    • Rodrigues M.-O., Freire A.P., Martins G., Pereira J., Martins M.-d.-C., Monteiro C. Glucose-6-phosphate dehydrogenase deficiency in Portugal: biochemical and mutational profiles, heterogeneity, and haplotype association. Blood Cells, Mol. Dis. 28:2002;249-259
    • (2002) Blood Cells, Mol. Dis. , vol.28 , pp. 249-259
    • Rodrigues, M.-O.1    Freire, A.P.2    Martins, G.3    Pereira, J.4    Martins -D. M, -C.5    Monteiro, C.6
  • 32
    • 0029021237 scopus 로고
    • Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: Identification of two new point mutations in the G6PD gene
    • Rovira A., Vulliamy T., Pujades M.A., Luzzatto L., Corrons J.L. Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene. Br. J. Haematol. 91:1995;66-71
    • (1995) Br. J. Haematol. , vol.91 , pp. 66-71
    • Rovira, A.1    Vulliamy, T.2    Pujades, M.A.3    Luzzatto, L.4    Corrons, J.L.5
  • 34
    • 0026520720 scopus 로고
    • A new mutation responsible for severe G6PD deficiency in two ethnic Chinese with different clinical presentations: Determination by a direct PCR sequencing technique
    • Zuo L., Chen E.X., Chang C.N., Du C.S., Liu T.Z., Chiu D.T.Y. A new mutation responsible for severe G6PD deficiency in two ethnic Chinese with different clinical presentations: determination by a direct PCR sequencing technique. Int. J. Hematol. 55:1992;39-44
    • (1992) Int. J. Hematol. , vol.55 , pp. 39-44
    • Zuo, L.1    Chen, E.X.2    Chang, C.N.3    Du, C.S.4    Liu, T.Z.5    Chiu, D.T.Y.6
  • 36
    • 0027468461 scopus 로고
    • Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients with Chinese descent and identification of new base substitutions in the human G6PD gene
    • Chiu D.T.Y., Zuo C.L., Chao L., Chen E., Louie E., Lubin B., Liu T.Z., Du C.S. Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients with Chinese descent and identification of new base substitutions in the human G6PD gene. Blood. 81:1993;2150-2154
    • (1993) Blood , vol.81 , pp. 2150-2154
    • Chiu, D.T.Y.1    Zuo, C.L.2    Chao, L.3    Chen, E.4    Louie, E.5    Lubin, B.6    Liu, T.Z.7    Du, C.S.8
  • 37
    • 0026629648 scopus 로고
    • Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: Five mutations account for most G6PD deficiency cases in Taiwan
    • Chang J.G., Chiou S.S., Perng L.I., Chen T.C., Liu T.C., Lee L.S., Chen P.H., Tang T.K. Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan. Blood. 80:1992;1079-1082
    • (1992) Blood , vol.80 , pp. 1079-1082
    • Chang, J.G.1    Chiou, S.S.2    Perng, L.I.3    Chen, T.C.4    Liu, T.C.5    Lee, L.S.6    Chen, P.H.7    Tang, T.K.8
  • 38
    • 0026591865 scopus 로고
    • Glucose-6-phosphate dehydrogenase variant in Hawaii
    • Beutler E., Westwood B., Kuhl W., Hsia Y.E. Glucose-6-phosphate dehydrogenase variant in Hawaii. Hum. Hered. 42:1992;327-329
    • (1992) Hum. Hered. , vol.42 , pp. 327-329
    • Beutler, E.1    Westwood, B.2    Kuhl, W.3    Hsia, Y.E.4
  • 40
    • 0027440263 scopus 로고
    • Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos and Laotians from Hawaii
    • Hsia Y.E., Miyakawa F., Baltazar J., Ching N.S., Yuen J., Westwood B., Beutler E. Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos and Laotians from Hawaii. Hum. Genet. 92:1993;470-476
    • (1993) Hum. Genet. , vol.92 , pp. 470-476
    • Hsia, Y.E.1    Miyakawa, F.2    Baltazar, J.3    Ching, N.S.4    Yuen, J.5    Westwood, B.6    Beutler, E.7
  • 41
    • 0037082463 scopus 로고    scopus 로고
    • A single mutation 202G→A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself
    • Hirono A., Kawate K., Honda A., Fujii H., Miwa S. A single mutation 202G→A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself. Blood. 99:2002;1498
    • (2002) Blood , vol.99 , pp. 1498
    • Hirono, A.1    Kawate, K.2    Honda, A.3    Fujii, H.4    Miwa, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.