G6PD Lozere and Trinacria-like. Segregation of two non hemolytic variants in a French family.
Two new G6PD variants have been found in red blood cells of the members of a French family originating from Lozere. The father is hemizygous for an electrophoretically fast variant with mild enzyme deficiency (50--60% of normal). The abnormal paternal G6PD gene is segregating in his daughter who is double heterozygous for maternal and paternal variants. This mutant enzyme, different from previously described variants is designated as Gd Lozere. The mother is heterozygous for another G6PD variant. Two sons are hemizygous for this latter mutant enzyme characterized by a moderate deficiency (25--30% of normal) and slower electrophoretic mobility with some slightly altered kinetic properties. This G6PD had been identified as Gd Trinacria like. These two abnormal enzymes are not associated with any hemolytic problem. Case reported is the first showing the segregation of two new mutant enzymes, distinct from common G6PD variants, among the members of the same family.
D004592:Electrophoresis, Starch Gel; D005260:Female; D005602:France; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood*; D006801:Humans; D007700:Kinetics; D008297:Male; D010375:Pedigree
D005954:Glucosephosphate Dehydrogenase