Description:
LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| hypoxanthine phosphoribosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.8 |
| |
| Gene |
HPRT1 |
| Chromosomal Location |
Xq26-q27.2 |
| Allelic Variant 1 |
308000.0043; LESCH-NYHAN SYNDROME |
| Identified Mutation |
EX9DEL; In cell line GM3467 from a patient with LNS, Yang et al. (1984) and Gibbs et al. (1990) demonstrated deletion of exon 9. No mRNA was demonstrable. |
| Remarks |
Fibro resistant to azaguanine and thioguanine; cannot utilize exogenous hypoxanthine; HPRT deficient; partial gene deletion beginning with the region coding for exons 7, 8 and 9 in the HPRT1 gene and extending 3' to the last exon; no detect stable HPRT mRNA |
| Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP, The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res463(3):309-26 2000 |
| PubMed ID: 11018746 |
| |
| Drinkwater NR, Klinedinst DK, Chemically induced mutagenesis in a shuttle vector with a low- background mutant frequency. Proc Natl Acad Sci U S A83:3402-6 1986 |
| PubMed ID: 3010297 |
| |
| Yang TP, Patel PI, Chinault AC, Stout JT, Jackson LG, Hildebrand BM, Caskey CT, Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature310:412-4 1984 |
| PubMed ID: 6087154 |
| |
| Jacobs L, Bean CL, Marx JA, Optimal phenotypic expression times for HPRT mutants induced in foreskin-, skin-, and lung-derived human diploid fibroblasts. Environ Mutagen5:717-31 1983 |
| PubMed ID: 6617601 |
| |
| Jacobs L, Demars R, Quantification of chemical mutagenesis in diploid human fibroblasts: induction of azaguanine-resistant mutants by N-methyl-N'-nitro-N- nitrosoguanidine. Mutat Res53:29-53 1978 |
| PubMed ID: 625304 |
| Passage Frozen |
10 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|