Erythrocyte Glucose-6-Phosphate Dehydrogenase in Caucasians: New Inherited Variant

Shows, Thomas B.; Tashian, Richard E.; Brewer, George J.; Dern, Raymond J.

doi:10.1126/science.145.3636.1056

Cited by 67 publications

(17 citation statements)

References 9 publications

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“…The G6PD Seattle found in the areas of Castelo Branco and Setúbal was previously detected in Scotland (24) in Israel (25), in Greece (26) and in Germany (27). Recently, by the use of molecular analysis, the G6PD Seattle mutation was found in Spain (28), in the Canary Islands (29,30) and in the north African Berber (30).…”

Section: Tablementioning

confidence: 93%

Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

Rodrigues

Freire²,

Martins

et al. 2002

Blood Cells, Molecules, and Diseases

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. This deficiency in erythrocytes has a prevalence of 0.51 Ϯ 0.109 in the Caucasoid male population of Portugal. The frequency for deficiency-conferring genes is 0.39% in the Portuguese population. In the herein study populations males from areas of Portugal presenting with the highest prevalence of G6PD deficiency (Castelo Branco, Setúbal, Faro, and Lisbon) as well as similar subjects located in the border Center/North area of the country (Viseu) have been analyzed for biochemical parameters and screened for mutations and haplotypeassociated mutations commensurate with G6PD deficiency. Six intragenic restriction fragment length polymorphisms (RFLPs) were studied: exon 5, nt 376 A 3 G, FokI; intron 5, nt 611 C 3 G, PvuII; intron 8, nt 163 C 3 T, BspHI; exon 10, nt 116 G 3 A, PstI; exon 11, nt 1311 C 3 T, BclI; and intron 11, nt 93 T 3 C, NlaIII. New haplotypes were constructed with the inclusion of intron 11, nt 93 T 3 C, NlaIII, and only 5 of 64 possible haplotypes were found to show a marked linkage disequilibrium for several RFLPs and also for mutations and specific haplotypes. The control population (n ϭ 168 males) presented the G6PD B variant and corresponded to haplotypes I (Ϫ Ϫ ϩ ϩ Ϫ Ϫ), Ia (Ϫ Ϫ ϩ ϩ Ϫ ϩ), and VIIa (Ϫ Ϫ ϩ ϩ ϩ ϩ), in 91.8, 2.3, and 5.9%, respectively. The PCR and sequencing analysis of extracted DNAs from the deficient G6PD group showed 48.6% (16/33) of individuals with the G6PD AϪ mutation, corresponding to haplotype VIa (ϩ ϩ Ϫ ϩ Ϫ ϩ); 9% (3/33) with the Betica mutation and 18% (6/33) with the Santa Maria mutation, both of them associated with haplotype IVa (ϩ Ϫ Ϫ ϩ Ϫ ϩ); 6.1% (2/33) with the Mediterranean mutation associated with haplotype VIIa; 12.3% (4/33) with the Seattle mutation, 3.0% (1/33) with Gaohe mutation; and a new mutation, 3.0% (1/33), which we designated by G6PD Flores, all of them associated with haplotype I. © 2002 Elsevier Science (USA)

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Section: Tablementioning

confidence: 93%

Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

Rodrigues

Freire²,

Martins

et al. 2002

Blood Cells, Molecules, and Diseases

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“…The doubly deficient mouse cells were derived from the LM/TK-line that lacks thymidine kinase activity (13). LM/TK-cells were exposed to 5 1sg of 8-azaguanine and the survivors to 20 ,ug of 8-azaguanine/ml of medium. The resistant population was maintained on this drug (20,ug/ml).…”

Section: Methodsmentioning

confidence: 99%

Genetics of Human-Mouse Somatic Cell Hybrids: Linkage of Human Genes for Lactate Dehydrogenase- A and Esterase-A ₄

Shows

1972

Proc. Natl. Acad. Sci. U.S.A.

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By use of human-mouse somatic cell hybrids, an autosomal gene linkage has been determined for the human loci controlling the phenotypes of lactate dehydrogenase- A (EC 1.1.1.27) and esterase-A 4 (EC 3.1.1.2). These structural loci were not linked to the lactate dehydrogenase- B , peptidase-B linkage, the X chromosome, the E 17 chromosome, or to nine other enzyme phenotypes examined.

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“…The leukocyte lysate was saturated to 35% with ammonium sulfate, and after 20 minutes at 0°C it was centrifuged for 10 minutes at 25,000 X g at + 20 C. The collected precipitate was suspended in 0.25 M glycylglycine buffer, pH 7.6, containing 5 X 10' M NADP.…”

Section: Purification Of the Enzymesmentioning

confidence: 99%

Characterization of leukocyte glucose 6-phosphate dehydrogenase in Sardinian mutants.

Bonsignore¹,

Fornaini²,

Leoncini³

et al. 1966

J. Clin. Invest.

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Erythrocyte Glucose-6-Phosphate Dehydrogenase in Caucasians: New Inherited Variant

Cited by 67 publications

References 9 publications

Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

Genetics of Human-Mouse Somatic Cell Hybrids: Linkage of Human Genes for Lactate Dehydrogenase- A and Esterase-A ₄

Characterization of leukocyte glucose 6-phosphate dehydrogenase in Sardinian mutants.

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Erythrocyte Glucose-6-Phosphate Dehydrogenase in Caucasians: New Inherited Variant

Cited by 67 publications

References 9 publications

Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

Genetics of Human-Mouse Somatic Cell Hybrids: Linkage of Human Genes for Lactate Dehydrogenase- A and Esterase-A 4

Characterization of leukocyte glucose 6-phosphate dehydrogenase in Sardinian mutants.

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Product

Resources

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Genetics of Human-Mouse Somatic Cell Hybrids: Linkage of Human Genes for Lactate Dehydrogenase- A and Esterase-A ₄