Eight Types of Bisalbuminaemia

Sjogren-Larsson syndrome in two sibs with peripheral nerve involvement and bisalbuminaemia

“…It has therefore been considered as an asymptomatic autosomal dominant characteristic. Tarnoky et al (1970) found eight types of albumin in eight unrelated families and we may assume that, with more sophisticated techniques, more knowledge will be gained. I am much indebted to Dr Corino Andrade for his advice and stimulating help.…”

Bisalbuminaemia in a Spanish family: characterization of the albumin variant

“…Their structural differences have not been worked out, but a comparison of their electrophoretic mobilities in different media and of their dye-binding properties will establish non-identities or leave identities as at least a possibility. A recent study, made by these means, found eight distinct albumin variants in eight unrelated families with bisalbuminaemia (Tarnoky, Dowding, and Lakin, 1970). This paper describes albumin Luarca, the first albumin variant from the Spanish mainland, found in Luarca on the Asturian coast.…”

“…It is clear from this two-centre study that small differences in running conditions will cause the relative electrophoretic mobility to vary and may even determine whether separation can take place. Standardized conditions for agreed test procedures, as advocated by Tarnoky et al (1970), will need stringent specification.…”

Fluorometric analysis

“…For enzymes that require some form of nicotinamide adenine dinucleotide as coenzyme, the assay is based on measuring the amount of fluorescence change in the reduced or oxidized form of NAD under specific conditions, as a result of the enzyme reaction. Procedures based on this technique have been reported for lactic dehydrogenase (179,929), malate dehydrogenase using oxalacetate substrate for the reverse reac- tion (825), creatine kinase (474), and beta-cyanoalanine synthetase (injectase) activity (522). Ribonuclease activity can be assayed readily with a dye that forms a fluorescent complex with nonhydrolyzed RNA but does not fluoresce in the presence of hydrolyzed RNA (459,695).…”