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...

Full description

Saved in:
Bibliographic Details
Published in:Human genetics 1976-07, Vol.33 (2), p.175-178
Main Authors: Shatskaya, T L, Krasnopolskaya, K D, Idelson, L J
Format: Article
Language:English
Subjects:
Genetic Variation
Glucosephosphate Dehydrogenase - blood
Glucosephosphate Dehydrogenase Deficiency - enzymology
Humans
Jews
Republic of Belarus
Ukraine
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
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
1432-1203
DOI:10.1007/BF00281892