Glucose-phosphate isomerase deficiency due to a new variant (GP I Barcelona) and to a silent gene: biochemical, immunological and genetic studies

Clinica Chimica Acta; International Journal of Clinical Chemistry
A KahnP Boivin

Abstract

A 12-year-old girl of Spanish origin was found to be double heterozygote for a deficient GP I variant (GP I Barcelona) and for a silent GP I gene. The mother was heterozygote for GP I Barcelona and the father was heterozygote for the silent gene. GP I Barcelona was a fast variant (116%) with an increased isoelectric point (9.55), lability to heat and to urea, and shift of the pH curve towards the acidic pH. The other kinetic characteristics were normal. The ratio of enzymatic activity to immunological reactivity was normal in erythrocytes and white blood cells of the father and the mother but decreased to 75% of normal in blood cells of the daughter. The genetic and molecular mechanisms of GP I deficiency of this patient are discussed.

References

Jan 1, 1971·Acta Anaesthesiologica Scandinavica. Supplementum·L Garby
Mar 16, 1973·Nature·F H Ruddle
Jul 1, 1972·Archives of Biochemistry and Biophysics·D M PayneR W Gracy

Citations

Jan 1, 1979·Human Genetics·A KahnJ C Dreyfus
Jan 1, 1978·American Journal of Hematology·A ZanellaG Sirchia
Jan 1, 1978·Scandinavian Journal of Haematology·C GalandJ P Bourgeaud
May 1, 1994·European Journal of Haematology·F AlfinitoB Rotoli

Related Concepts

Anemia, Hemolytic, Congenital Nonspherocytic
Antigen-Antibody Reactions
Carbohydrate Metabolism, Inborn Errors
Drug Stability
Immunodiffusion Measurement
Cistron
Genetic Carriers
Hydrogen-Ion Concentration
Leukocytes
Genealogical Tree

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