|
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?
|
Ссылки:
1. Gene: [0Xq261/HPRT1] hypoxanthine phosphoribosyltransferase 1 (deficiency: Lesch-Nyhan syndrome); hypoxanthine guanine phosphoribosyltransferase 1 (deficiency: Lesch-Nyhan syndrome); Lesch-Nyhan syndrome (HPRT deficiency);
