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Journals and Conferences
An improved method of grouping hair, based on the alleles of PGM observed by isoelectric focusing, has been described. The increased discriminating power of this system (0.77) compared to that obtained by the starch gel technique (0.55) provides a new and more sensitive means of typing hair.
The existence of 4 alleles of phosphoglucomutase (PGM1) in human red cell lysates has been demonstrated by isoelectric focusing confirming earlier work by Bark et al. and Kuhnl et al. A survey of 101 red cell lysates and the inheritance of these alleles in 24 families are now described.
The isoelectric focusing patterns of red cell phosphoglucomutase (PGM1) separated on Ampholine, Ampholine/separator and rehydratable immobilised pH gradients have been compared. The sharpest and most intense zymograms have been observed on immobilised pH gradients provided that Ampholine was added during the rehydration of the gel. The addition of ampholine… (More)
The PGM3 locus, like the PGM1 locus, is shown to be easily demonstrated in hair sheath cells using starch gel electrophoresis. The discriminating power of the total system (PGM1 and PGM3) on starch gel electrophoresis closely approaches that observed by isoelectric focusing of the PGM1 locus. Family studies of the PGM3 locus variants in hair sheath cells… (More)
Atypical haemolytic uraemic syndrome (aHUS) is a disorder of complement dysregulation. Because complement factor B (fB) carries the catalytic site of the alternative pathway convertase we examined it as both a potential candidate gene and modifier in the pathogenesis of aHUS. No factor B gene (BF) mutations were found in 20 patients with aHUS. There was no… (More)