Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.

Nucleosides, nucleotides & nucleic acids - 1 Oct 2004

Mizunuma Makiko, Yamada Yasukazu, Yamada Kenichiro, Sonta Shin-Ichi, Wakamatsu Nobuaki, Kaneko Kiyoko, Ogasawara Nobuaki, Fujimori Shin

Abstract excerpt

In this study, we have identified a novel mechanism of mutation involving translocation between the HPRT1 loci and other loci on the X chromosome. In HRT-25's cDNA obtained from a patient with Lesch-Nyhan syndrome, the upstream region of exon 3 was amplified, but the full-length region was not amplified. The use of 3' rapid amplification of cDNA ends polymerase chain reaction (3'RACE-PCR) for HRT-25 revealed part...

Topics

Chromosomes, Human, X
DNA, Complementary
Databases as Topic
Exons
Germ Cells
Humans
Hypoxanthine Phosphoribosyltransferase
Introns
Lesch-Nyhan Syndrome
Models, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Telomere

Translocation, Genetic

Source

Identifiers

PMID: 15571224
DOI: 10.1081/NCN-200027441

Genes

HPRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.PMID 15571224Read ↗

Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.Semantic proximity Read ↗

Identification of novel mutations in the human HPRT gene.Semantic proximity Read ↗

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Semantic proximity Read ↗

HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.Semantic proximity Read ↗

Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.Semantic proximity Read ↗

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Semantic proximity Read ↗

A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.Semantic proximity Read ↗

Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.Semantic proximity Read ↗

Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.Semantic proximity Read ↗

The Study on the Clinical Phenotype and Function of HPRT1 GeneSemantic proximity Read ↗

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan familiesSemantic proximity Read ↗

Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.