[Adenine phosphoribosyltransferase and hypoxanthine phosphoribosyltransferase of blood platelets in hereditary coagulopathies].
Activities of adenine phosphoribosyltransferase (EC 2.4.2.7 APRT) and hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8 HGPRT) were studied in thrombocytes of healthy donors, patients with hemophilia A and B and of women--heterozygote carriers of the pathologic gene. The data obtained suggest that HGPRT test may be used as a genetic marker of hemophilia as well as to detect the heterozygote carriers; estimation of APRT activity is suitable test for differentiation of hemophilia forms.
D000228:Adenine Phosphoribosyltransferase / Q000097:blood* / Q000172:deficiency; D001792:Blood Platelets / Q000201:enzymology*; D005260:Female; D006467:Hemophilia A / Q000201:enzymology* / Q000235:genetics; D002836:Hemophilia B / Q000201:enzymology* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood* / Q000172:deficiency; D008297:Male; D010430:Pentosyltransferases / Q000097:blood*
D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase
Adeninfosforiboziltransferaza i gipoksantin-guaninfosforiboziltransferaza trombotsitov krovi pri nasledstvennykh koagulopatiiakh.