Microscale isoelectric focusing studies of mouse and human hypoxanthine-guanine phosphoribosyl transferases

Inherited Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase in X-Linked Uric Aciduria (the Lesch-Nyhan Syndrome and Its Variants)

“…80 Neither was it within linkage distance of Deutan color blindness in an Australian kindred. 95 Nabholz et al,230 using the progressive loss of human chromosomes from mouse-human hybrid cells, found the expected evidence of X linkage, which was confirmed by similar studies of Ruddle et al 274 ,277-280 and others.304 Studies using a 14/X translocation have provided evidence that the HPRT locus is on the long arm of the X chromosome between the locus for phosphoglycerate kinase (PGK) on the more proximal portion of the arm relative to the centromere and glucose-6-phosphate dehydrogenase on the more distal portion of the arm.279 Evidence of a similar relationship of these genes has been obtained from studies of cells in a 19/X translocation by Gerald. 278 Relationship to banding patterns has also been determined.…”

Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.

“…Secondly, these kinetic ab- (32,33) on the basis of a nongenetic alteration of the enzyme protein (15). Multiple molecular forms have also been described in mouse and human cultured cell extracts (49). In this study the mutant enzyme from the patient had an abnormal isozyme pattern by isoelectric focusing, while the enzyme from the patient's mother appeared to have a series of isozymes that included the mutant and normal forms.…”