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Mutant forms of erythrocyte glucose 6-phosphate dehydrogenase in Ashkenazi. Description of two new variants: G6PD kirovograd and G6PD zhitomir

✍ Scribed by T. L. Shatskaya; K. D. Krasnopolskaya; L. J. Idelson

Publisher
Springer
Year
1976
Tongue
English
Weight
191 KB
Volume
33
Category
Article
ISSN
0340-6717

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✦ Synopsis

Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their analogues and are not associated with chronic hemolytic disease. Probably, all 4 variants arise from two ancestral mutations.

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