G6PD deficiency: the genotype-phenotype association.

G6PD deficiency: the genotype-phenotype association. Research Abstract Details 

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G6PD deficiency: the genotype-phenotype association. Abstract Text:

Philip J Mason, Bautista,Florinda Gilsanz,Philip J Mason, Bautista,Florinda Gilsanz,

Deficiency of glucose-6-phosphate dehydrogenase is a very common X-linked genetic disorder though most deficient people are asymptomatic. A number of different G6PD variants have reached polymorphic frequencies in different parts of the world due to the relative protection they confer against malaria infection. People, usually males, with deficient alleles are susceptible to neonatal jaundice, and acute hemolytic anemia, usually during infection, after treatment with certain drugs or after eating fava beans. Very rarely de novo mutations can arise causing the more severe condition of chronic nonspherocytic hemolytic anemia. Altogether 160 different mutations have been described. The majority of mutations cause red cell enzyme deficiency by decreasing enzyme stability. The polymorphic mutations affect amino acid residues throughout the enzyme and decrease the stability of the enzyme in the red cell, possibly by disturbing protein folding. The severe mutations mostly affect residues at the dimer interface or those that interact with a structural NADP molecule that stabilizes the enzyme.

G6PD deficiency: the genotype-phenotype association. Publishing Authors By Initials

PJ Mason,JM Bautista,F Gilsanz,PJ Mason,JM Bautista,F Gilsanz,

For similar genetic phenomena: variation (genetics): polymorphism, genetic research abstracts see: genetic phenomena: variation (genetics): polymorphism, genetic research

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G6PD deficiency: the genotype-phenotype association. Journal Published:

PUBLICATION TYPE: Review

Journal: Blood reviews

VOLUME: 21

Page Numbers: 267-83

Journal Abbreviation: Blood Rev.

ISSN: 0268-960X

DAY: 3

MONTH: 07

YEAR: 2007

G6PD deficiency: the genotype-phenotype association. Information

Number of References: 111

LANGUAGE: eng

NlmUniqueID: 8708558

G6PD deficiency: the genotype-phenotype association. Keywords Mesh Terms:

KEYWORDS: Polymorphism, Genetic

MESH TERMS: metabolism

Chemical & Substance for Abstract: G6PD deficiency: the genotype-phenotype association. Information

Substance Name: Glucosephosphate Dehydrogenase

Registry Number: EC 1.1.1.49

Grant and Affiliation Information for G6PD deficiency: the genotype-phenotype association.

AFFILIATION: Division of Hematology, Department of Internal Medicine, Washington University School of Medicine, Campus Box 8125, 660 South Euclid Avenue, St. Louis, MO 63110, USA. Pmason@im.wustl.edu

Country: Scotland

AGENCY: United States NCI

GRANT: R01 CA106995

ACRONYM: CA

MEDLINETA: Blood Rev

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