title: Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type).
abstract: G6PD activity was assayed in 20 Sardinian heterozygotes for G6PD deficiency and related to that of LDH and MDH. One of these heterozygotes showed a deficient phenotype in all her follicles, while the remaining 19 had different proportions of deficient, intermediate, and normal follicles. This is in accordance with a previous estimate. Because of the broad fiducial limits at the 5% level and because of some developmental considerations, this value cannot be interpreted as indicative of the number of primordial cells for scalp epidermis at the time of X-chromosome inactivation, as previously stated. The assay of single hair follicles is, however, a very valuable tool for establishing the role of cell selection in the same or in a different tissue, like peripheral blood.
mesh_terms: D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology*; D006197:Hair; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D010641:Phenotype; D012867:Skin / Q000201:enzymology*
chemical_list: D005954:Glucosephosphate Dehydrogenase