SCOPUS 정보 검색 플랫폼

Volumn 28, Issue 2, 2002, Pages 249-259

Glucose-6-phosphate dehydrogenase deficiency in Portugal: Biochemical and mutational profiles, heterogeneity, and haplotype association

(5) Rodrigues, Maria Odete a Freire, Ana Ponces b Martins, Gisela a Pereira, Júlia a Monteiro, Carolino c

a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE (Portugal)

b UNIVERSITY OF LISBON (Portugal)

c INSTITUTO DE HIGIENE E MEDICINA TROPICAL (Portugal)

Author keywords

G6PD epidemiology; G6PD haplotypes; Glucose 6 phosphate dehydrogenase (G6PD) deficiency; Linkage disequilibrium; Portuguese population

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ADULT; ARTICLE; BIOCHEMISTRY; CAUCASIAN; CONTROLLED STUDY; DNA EXTRACTION; EXON; GENE LINKAGE DISEQUILIBRIUM; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HAPLOTYPE; HUMAN; INBORN ERROR OF METABOLISM; INTRON; MALE; MUTATION; POLYMERASE CHAIN REACTION; PORTUGAL; PREVALENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; ADOLESCENT; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETICS; METHODOLOGY; NUCLEOTIDE SEQUENCE; TOPOGRAPHY;

IVA;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC HETEROGENEITY; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HAPLOTYPES; HUMANS; MALE; MUTATION; PORTUGAL; TOPOGRAPHY, MEDICAL;

EID: 0036304054 PISSN: 10799796 EISSN: None Source Type: Journal
DOI: 10.1006/bcmd.2002.0505 Document Type: Article

Times cited : (22)

References (33)

1
- 0003486206
- Standardization of procedures for the study of glucose-6-phosphate dehydrogenase
- (1967) WHO Tech. Rep. Ser. , vol.366 , pp. 30-43
- Betke, K.¹ Brewer, G.J.² Kirkman, H.N.³ Luzzatto, L.⁴ Motulsky, A.G.⁵ Ramot, B.⁶ Siniscalco, M.⁷

2
- 0025965939
- Glucose-6-phosphate dehydrogenase deficiency
- (1992) N. Engl. J. Med. , vol.324 , pp. 169-174
- Beutler, E.¹

3
- 0014680915
- Glucose-6-phosphate dehydrogenase deficient red cells: Resistance to infection by malarial parasites
- (1969) Science , vol.164 , pp. 839-842
- Luzzatto, L.¹ Usanga, E.A.² Reddy, S.³

4
- 0026642147
- The molecular biology of G6PD variants and other red cell enzyme defects
- (1992) Ann. Hum. Genet. , vol.43 , pp. 47-55
- Beutler, E.¹

5
- 0027479487
- Hereditary anaemias in Portugal: Epidemiology, public health significance and control
- (1993) J. Med. Genet. , vol.30 , pp. 325-329
- Martins, M.C.¹ Olim, G.² Melo, J.³ Magalhães, H.A.⁴ Rodrigues, M.O.⁵

6
- 0002556028
- Glucose-6-phosphate dehydrogenase
- (Stanburg, J. B., Wynagaarden, J. B., Brown, M. S., Fred-erickson, D. S., and Goldstein, J. L., Eds.), 5th ed. McGraw-Hill, New York, NY
- (1983) Metabolic Basis of Inherited Diseases , pp. 1629-1653
- Beutler, E.¹

7
- 0024284028
- A simple salting out procedure for extracting DNA from human nucleated cells
- (1988) Nucleic Acids Res. , vol.16 , pp. 1215-1219
- Miller, S.A.¹ Dykes, D.D.² Polesky, H.F.³

8
- 0024595101
- Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms
- (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 2766-2770
- Orita, M.¹ Iwahara, H.² Kanazawa, H.³ Hayashi, K.⁴ Sekiya, T.⁵

9
- 0024756969
- Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
- (1989) Genomics , vol.5 , pp. 874-879
- Orita, M.¹ Suzuki, Y.² Sekiya, T.³ Hayashi, K.⁴

10
- 0017681196
- DNA sequencing with chain termination inhibitions
- (1977) Proc. Natl. Acad. Sci. USA , vol.74 , pp. 5463-5464
- Sanger, F.¹ Nickeen, S.² Coutson, R.³

11
- 0009716836
- A novel point mutation in exon 12 on the glucose-6-phosphate dehydrogenase gene: G6PD Flores
- (1997) Med. Genet. , vol.9 , pp. 259
- Rodrigues, M.O.¹ Pereira, J.² Gaspar, G.³ Martins, M.C.⁴ Monteiro, C.⁵

12
- 0026002955
- Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants G6PD A and A-
- (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 8568-8571
- Vulliamy, T.J.¹ Othman, A.² Town, M.³ Natwani, A.⁴ Falusi, A.G.⁵ Mason, P.J.⁶ Luzzatto, L.⁷

13
- 0028143967
- At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria
- (1994) Hum. Genet. , vol.94 , pp. 513-517
- Nafa, K.¹ Reghis, A.² Osmani, N.³ Baghli, L.⁴ Abbes, H.⁵ Benabadji, M.⁶ Kaplan, J.C.⁷ Vulliamy, T.⁸ Luzzatto, L.⁹

14
- 0026567018
- The origin of glucose-6-phosphate dehydrogenase (G6PD) polymorphisms in African-Americans
- (1992) Am. J. Hum. Genet. , vol.50 , pp. 394-398
- Kay, A.C.¹ Kuhl, W.² Prchal, J.³ Beutler, E.⁴

15
- 0019268573
- Caracterization molecular de la glucose-6-fosfato deshydrogenase (G6PD) en 24 casos de deficit enzimatico y descripcion de una nueva variante (G6PD-Betica)
- (1980) Sangre (Banc) , vol.25 , pp. 1049-1053
- Vives-Corrons, J.L.¹ Pujades, A.² Cunia, M.D.³

16
- 0024455091
- Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-
- (1989) Blood , vol.74 , pp. 2550-2555
- Beutler, E.¹ Kuhl, W.² Vives-Corrons, J.L.³ Prchal, J.Y.⁴

17
- 0021130510
- A glucose-6-phosphate dehydrogenase variant Gd(-) Santamaria found in Costa Rica
- (1984) Acta Haematol. , vol.72 , pp. 37-40
- Saenz, G.F.¹ Chaves, M.² Berrantes, A.³ Elizondo, J.⁴ Monteiro, A.G.⁵ Yoshida, A.⁶

18
- 0025965939
- Glucose-6-phosphate dehydrogenase deficiency
- (1991) N. Engl. J. Med. , vol.324 , pp. 169-174
- Beutler, E.¹

19
- 0024338988
- The frequency and origin of the sickle cell mutation in the district of Coruche/Portugal
- (1989) Hum. Genet. , vol.82 , pp. 255-258
- Monteiro, C.¹ Rueff, J.² Falcão, A.B.³ Portugal, S.⁴ Weatherall, D.J.⁵ Kulozik, A.E.⁶

20
- 0026973150
- Importation route of the sickle cell trait into Portugal: Contribution of molecular epidemiology
- (1992) Hum. Biol. , vol.64 , pp. 891-901
- Lavinha, J.¹ Gonçalves, J.² Faustino, P.³ Romão, L.⁴ Osório-Almeida, L.⁵ Peres, M.J.⁶ Picanço, I.⁷ Martins, M.C.⁸ Ducrocq, R.⁹ Labie, D.¹⁰ Krishnamoorthy, R.¹¹

21
- 0025203513
- The nt 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia
- (1990) Am. J. Hum. Genet. , vol.47 , pp. 1008-1012
- Beutler, E.¹ Kuhl, W.²

22
- 0025242265
- Origin and spread of the glucose-6-phosphate-dehydrogenase variant (G6PD Mediterranean) in the Middle East
- (1990) Am. J. Hum. Genet. , vol.47 , pp. 1013-1019
- Kurdi-Haider, B.¹ Mason, P.J.² Berrebi, A.³ Ankra-Badu, G.⁴ Al-Ali, A.⁵ Oppenheim, A.⁶ Luzzatto, L.⁷

23
- 0027525591
- Glucose-6-phosphate dehydrogenase nucleotide 1311 polymorphism in central Italy (Marche Region)
- (1993) Enzyme Protein , vol.47 , pp. 22-26
- Ruzzo, A.¹ Ninfali, P.² Magnani, M.³

24
- 0009678067
- Electrophoretic differences of human erythrocyte glucose-6-phosphate dehydrogenase
- (1962) Am. J. Dis. Child. , vol.104 , pp. 566-570
- Kirkman, H.¹

25
- 0000475222
- Caracterization of glucose-6-phosphate dehydrogenase in Jewish mutants
- (1964) J. Lab. Clin. Med. , vol.64 , pp. 895-904
- Ramot, B.¹ Bauminger, S.² Brock, F.³ Gafni, D.⁴ Schwartz, J.⁵

26
- 85057649851
- Glucose-6-fosfato dehydrogenase (G6PD) deficiency, thalassaemia and abnormal haemoglobins in the Philippines
- (1964) J. Med. Genet. , vol.1 , pp. 102-106
- Motulsky, A.G.¹ Stransky, E.² Frasa, G.R.³

27
- 0009678974
- Erythrocyte glucose-6-phosphate dehydrogenase in Caucasians: New inherited variant
- (1964) Science , vol.145 , pp. 1056-1064
- Shows, T.B.¹ Tashian, R.E.² Brewer, G.J.³ Dern, R.J.⁴

28
- 0029021237
- Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: Identification of two new point mutations in the G6PD gene
- (1995) Br. J. Haematol. , vol.91 , pp. 66-71
- Rovira, A.¹ Vulliamy, T.² Pujedes, M.A.³ Luzzatto, L.⁴ Vivves-Corrons, J.L.⁵

29
- 0028852395
- Glucose-6-phosphate dehydrogenase mutations and haplotypes in various ethnic groups
- (1995) Blood , vol.85 , pp. 257-263
- Xu, W.¹ Westwood, B.² Bartsocas, C.³ Malcorra-Azpiazu, J.J.⁴ Indrák, K.⁵ Beutler, E.⁶

30
- 0029997759
- Human enzyme polymorphism in the Canary Islands. VII. G6PD Seattle in Canarians and North African Berbers
- (1996) Hum. Hered. , vol.46 , pp. 197-200
- Cabrera, U.M.¹ Gonzalez, P.² Salo, W.L.³

31
- 0030805704
- Molecular genetics of glucose-6-phosphate dehydrogenase deficiency in Mexico
- doi: 10.1006/bcmd.1997.0124
- (1997) Blood Cells Mol. Dis. , vol.23 , pp. 88-94
- Medina, M.D.¹ Vaca, G.² Guido-Lopez, B.³ Westwood, B.⁴ Beutler, E.⁵

32
- 85031455336
- Os Cristãos-Novos em Portugal no século XX
- (1925) Arqueol. História , vol.4 , pp. 6-45
- Schwarz, S.¹

33
- 0025165882
- Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA
- (1990) Biochem. J. , vol.2171 , pp. 157-160
- Poggi, V.¹ Town, M.² Foulkes, N.³ Luzzatto, L.⁴

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