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

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 subst...

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Bibliographic Details
Published inHuman genetics Vol. 33; no. 2; p. 175
Main Authors Shatskaya, T L, Krasnopolskaya, K D, Idelson, L J
Format Journal Article
LanguageEnglish
Published Germany 27.07.1976
Subjects
Genetic Variation
Glucosephosphate Dehydrogenase - blood
Glucosephosphate Dehydrogenase Deficiency - enzymology
Humans
Jews
Republic of Belarus
Ukraine
Republic of Belarus
Ukraine
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Summary: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.
ISSN:0340-6717
DOI:10.1007/BF00281892