Description:
LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| MUTATION VERIFICATION |
Gibbs et al (Proc Natl Acad Sci USA 86:1919-1923 1989) reported that HPRT cDNA from this Lesch-Nyhan syndrome cell culture lacked the 5 prime most 17 bases of exon 9. |
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| IMMUNOGLOBULIN PRODUCTION |
Lymphoid Culture Secretes IgG |
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| 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 |
HLA type A2,A11,B18,B5(Bw35); lymphoid culture is nonviable in HAT medium; the 5'-most 17 bases of exon 9 are deleted in HPRT cDNA |
| Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018 |
| PubMed ID: 30326846 |
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| Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR, Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet7:189-94 1994 |
| PubMed ID: 7920640 |
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| Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT, Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A86:1919-23 1989 |
| PubMed ID: 2928313 |
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