Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen)

Publication type:
Journal article
Metadata:
Autoren
  • T Efferth
  • R Osieka
  • E Beutler
Autoren-URL
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=fis-test-1&SrcAuth=WosAPI&KeyUT=WOS:000088010000026&DestLinkType=FullRecord&DestApp=WOS_CPL
DOI
10.1006/bcmd.2000.0281
Externe Identifier
  • Clarivate Analytics Document Solution ID: 331GM
  • PubMed Identifier: 10772881
ISSN
1079-9796
Ausgabe der Veröffentlichung
1
Zeitschrift
BLOOD CELLS MOLECULES AND DISEASES
Schlüsselwörter
  • glucose-6-phosphate dehydrogenase
  • DNA sequence
  • point mutation
Paginierung
101 - 104
Datum der Veröffentlichung
2000
Status
Published
Titel
Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen)
Sub types
  • Article
Ausgabe der Zeitschrift
26

Data source: Web of Science (Lite)

Other metadata sources:
Autoren
  • Thomas Efferth
  • Rainhardt Osieka
  • Ernest Beutler
DOI
10.1006/bcmd.2000.0281
ISSN
1079-9796
Ausgabe der Veröffentlichung
1
Zeitschrift
Blood Cells, Molecules, and Diseases
Sprache
en
Paginierung
101 - 104
Datum der Veröffentlichung
2000
Status
Published
Herausgeber
Elsevier BV
Herausgeber URL
http://dx.doi.org/10.1006/bcmd.2000.0281
Datum der Datenerfassung
2021
Titel
Molecular Characterization of a German Variant of Glucose-6-phosphate Dehydrogenase Deficiency (G6PD Aachen)
Ausgabe der Zeitschrift
26

Data source: Crossref

Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-chromosome-linked hereditary disorder. Clinically, patients with G6PD deficiency often present with drug- or food-induced hemolytic crises or neonatal jaundice. G6PD is involved in the generation of NADPH and reduced glutathione. In contrast to American, Mediterranean, and African ancestries, only few variants are known from Middle and Northern Europe. We describe the molecular characterization of a distinct variant from the northwestern area of Germany, G6PD Aachen. The sequence of the G6PD gene from three afflicted males was found to be hemizygous at cDNA residue 1089 for a C-->G mutation with a predicted amino acid change of Asn363Lys. The 1089 C-->G point mutation is unique, but produces the identical amino acid change found in a Mexican variant of G6PD deficiency, G6PD Loma Linda. This G6PD-deficient variant is caused by a 1089 C-->A mutation. The 363-amino-acid replacement is located outside a known mutation cluster region between amino acid residues 380 and 450, but may disrupt or weaken dimer interactions of G6PD enzyme subunits.
Addresses
  • Department of Internal Medicine 4, University Hospital of Aachen, Federal Republic of Germany.
Autoren
DOI
10.1006/bcmd.2000.0281
eISSN
1096-0961
Externe Identifier
  • PubMed Identifier: 10772881
Funding acknowledgements
  • NHLBI NIH HHS: HL25552
  • NCRR NIH HHS: RR00833
Open access
false
ISSN
1079-9796
Ausgabe der Veröffentlichung
1
Zeitschrift
Blood cells, molecules & diseases
Schlüsselwörter
  • Humans
  • Glucosephosphate Dehydrogenase Deficiency
  • Glucosephosphate Dehydrogenase
  • Amino Acid Substitution
  • DNA Mutational Analysis
  • Binding Sites
  • Dimerization
  • Kinetics
  • Point Mutation
  • Adult
  • Aged
  • Germany
  • Male
  • Genetic Variation
Sprache
eng
Medium
Print
Paginierung
101 - 104
Datum der Veröffentlichung
2000
Status
Published
Datum der Datenerfassung
2000
Titel
Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen).
Sub types
  • Research Support, U.S. Gov't, P.H.S.
  • Research Support, Non-U.S. Gov't
  • Journal Article
  • Case Reports
Ausgabe der Zeitschrift
26

Data source: Europe PubMed Central

Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-chromosome-linked hereditary disorder. Clinically, patients with G6PD deficiency often present with drug- or food-induced hemolytic crises or neonatal jaundice. G6PD is involved in the generation of NADPH and reduced glutathione. In contrast to American, Mediterranean, and African ancestries, only few variants are known from Middle and Northern Europe. We describe the molecular characterization of a distinct variant from the northwestern area of Germany, G6PD Aachen. The sequence of the G6PD gene from three afflicted males was found to be hemizygous at cDNA residue 1089 for a C-->G mutation with a predicted amino acid change of Asn363Lys. The 1089 C-->G point mutation is unique, but produces the identical amino acid change found in a Mexican variant of G6PD deficiency, G6PD Loma Linda. This G6PD-deficient variant is caused by a 1089 C-->A mutation. The 363-amino-acid replacement is located outside a known mutation cluster region between amino acid residues 380 and 450, but may disrupt or weaken dimer interactions of G6PD enzyme subunits.
Autoren
  • T Efferth
  • R Osieka
  • E Beutler
Autoren-URL
https://www.ncbi.nlm.nih.gov/pubmed/10772881
DOI
10.1006/bcmd.2000.0281
Funding acknowledgements
  • NHLBI NIH HHS: HL25552
  • NCRR NIH HHS: RR00833
ISSN
1079-9796
Ausgabe der Veröffentlichung
1
Zeitschrift
Blood Cells Mol Dis
Schlüsselwörter
  • Adult
  • Aged
  • Amino Acid Substitution
  • Binding Sites
  • DNA Mutational Analysis
  • Dimerization
  • Genetic Variation
  • Germany
  • Glucosephosphate Dehydrogenase
  • Glucosephosphate Dehydrogenase Deficiency
  • Humans
  • Kinetics
  • Male
  • Point Mutation
Sprache
eng
Country
United States
Paginierung
101 - 104
PII
S1079-9796(00)90281-X
Datum der Veröffentlichung
2000
Status
Published
Datum, an dem der Datensatz öffentlich gemacht wurde
2000
Titel
Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen).
Sub types
  • Case Reports
  • Journal Article
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
Ausgabe der Zeitschrift
26

Data source: PubMed

Beziehungen:
Property of

Tools