Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.
In women heterozygous for hypoxanthine guanine phosphoribosyl trasferase deficiency, the activity of this enzyme in the erythrocyte is usually normal. In a key kindred two such obligate heterozygotes were also heterozygous for glucose-6-phosphate dehydrogenase types A and B. The AB genotype was confirmed in one by assay of skin fibroblasts. Erythrocytes were exclusively of type B. These observations suggest the clonal origin of the hematopoietic system in these women from a primordial cell line with a single active X chromosome.
D002460:Cell Line; D002869:Chromosome Aberrations; D004589:Electrophoresis, Disc; D004912:Erythrocytes / Q000201:enzymology*; D005347:Fibroblasts / Q000201:enzymology; D005826:Genetics, Medical; D005954:Glucosephosphate Dehydrogenase / Q000032:analysis / Q000097:blood*; D006238:Haploidy; D006413:Hematopoietic System; D006579:Heterozygote; D006801:Humans; D066298:In Vitro Techniques; D007527:Isoenzymes / Q000032:analysis / Q000097:blood; D010375:Pedigree; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000097:blood*; D012729:Sex Chromosome Aberrations; D012867:Skin / Q000166:cytology; D014166:Transferases / Q000097:blood
D007527:Isoenzymes; D005954:Glucosephosphate Dehydrogenase; D014166:Transferases