Description:
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
X Chromosome Markers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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CANADIAN
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
G6PD |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
305900.0032; CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA |
| Identified Mutation |
SER106CYS, ARG182TRP, ARG198CYS; Nucleotide sequencing of the cDNA revealed three nucleotide base changes: a C>G at nucleotide 317 (counting from adenine of the initiation codon, which results in the Ser>Cys substitution at position 106 (S106C), a C>T at nucleotide 544, which induces the Arg>Trp at position 182 (R182W), and a C>T at nucleotide 592, which induces Arg>Cys at position 198 (R198C) of the G6PD protein. |
| Remarks |
Canadian; chronic hemolytic anemia; neutrophil dysfunction; granuloma; analysis of mRNA revealed three nucleotide base changes resulting in amino acid substitutions Ser>Cys at position 106 [Ser106Cys (S106C)], Arg>Trp at position 182 [Arg182Trp (R182W)], and Arg>Cys at 198 [Arg198Cys (R198C)] |
| Maeda M, Constantoulakis P, Chen CS, Stamatoyannopoulos G, Yoshida A, Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme activity and immunologically cross-reacting material. Am J Hum Genet51:386-95 1992 |
| PubMed ID: 1353664 |
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| Gray GR, Stamatoyannopoulos G, Naiman SC, Kliman MR, Klebanoff SJ, Austin T, Yoshida A, Robinson GC, Neutrophil dysfunction, chronic granulomatous disease, and non- spherocytic haemolytic anaemia caused by complete deficiency of glucose- 6-phosphate dehydrogenase. Lancet2:530-4 1973 |
| PubMed ID: 4125296 |
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