Gene: [03^/HPRTP1] hypoxanthine phosphoribosyltransferase pseudogene 1;

FAG

About the gene encoding hypoxanthine phosphoribosyltransferase (EC:2.4.2.8; its defect causes Lesch-Nyhan syndrome) and about location of HPRT pseudogenes, see GEM:0Xq261/HPRT1."

POL

Gene-specific DNA probe plambda101 (a 2.2-kb fragment) has been cloned at BamHI/EcoRI sites in the plasmid pUC8. ------------------------------------------ RFLP systems: -------------
[1] HindIII A-RFLP (Dobrovic-1987; Probe [1]): allele A1= 9.8 kb/(popul freq= 0.96); allele A2= 10.4/(0.04)"

REL

GEM:0Xq261/HPRT1; GEM:03^/HPRTP1; GEM:05p1/HPRTP2; GEM:11q/HPRTP3; GEM:11q/HPRTP4."

REF

PRO,POL "Dobrovic A &: NAR, 15, 1346, 1987
CLO,PRO,LOC,FAG "Patel PI &: Somat Cell Mol Genet, 10, 483-493, 1984
CLO,PRO,LOC,FAG "see GEM:0Xq261/HPRT1

KEY

neu, mtbd, nucm

CLA

psi, basic

LOC

03

MIM

MIM: 308000?