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Glucose-6-phosphate dehydrogenase porbandar: A new slow variant with slightly reduced activity in a South African family of Indian descent
Authors:Eftihia Cayanis  A B Lane  T Jenkins  G T Nurse  Doris Balinsky
Institution:(1) Enzyme Research Unit and Departments of Human Genetics and Haematology, School of Pathology, The South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa
Abstract:A new variant of the red cell enzyme glucose-6-phosphate dehydrogenase has been detected in a South African male of Indian descent and in several of his relatives. The enzyme variant is characterized by slow electrophoretic mobility, low Michaelis constants for the substrates glucose-6-phosphate and NADP, and increased utilization of the substrate analogues 2-deoxyglucose-6-phosphate and deamino-NADP relative to the normal (B+) enzyme. There is no evidence that the enzyme variant, for which the name ldquoG6PD Porbandarrdquo is suggested, is associated with any hematological abnormality.The Atomic Energy Board and the South African Medical Research Council provided support for part of this work.
Keywords:glucose-6-phosphate dehydrogenase  Michaelis constants  G6PD Porbandar  South African Indian
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