G6PD Punjab,a dialysis sensitive variant of human glucose-6-phosphate dehydrogenase |
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Authors: | C. Verma J. Th. Wijnen P. Meera Khan |
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Affiliation: | 1. Department of Human Genetics, Sylvius Laboratories, State University of Leiden, Wassenaarseweg 72, 2300, RA Leiden, The Netherlands
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Abstract: | Erythrocyte samples from 101 individuals, originally from Punjab and living at the time of investigation in England, were screened for glucose-6-phosphate dehydrogenase (G6PD) variants by Beutler’s fluorescent spot test and standard cellulose acetate gel (Cellogel) electrophoresis. All but 2 of the 40 males in the study were found to be indistinguishable from normal G6PD B. One of the variants had 2% of the normal activity and resembled G6PD Mediterranean in electrophoretic behaviour. The other variant showed 52% of the normal activity and migrated slower than G6PD B in Cellogel with about half of the normal band intensity. A set of physicochemical characteristics of the variant determined by conventional methods distinguished it from the variants reported so far. It was designated as G6PD Punjab, and the corresponding allele asG6PD PUN. The most striking feature of G6PD Punjab is a remarkable alteration in its electrophoretic behaviour after dialysis. |
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