Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A locus on chromosome 7 controls the electrophoretic mobility of hypoxanthine phosphoribosyltransferase (HPRT) isoenzymes in mouse erythrocytes, but not in several other tissues. This locus is designated Hma (HPRT mobility alteration) and maps very close to the Hbb locus. The A/J, AKR/J, AU/SsJ, BALB/cJ, CBA/J, C3H/HeJ, DBA/2J, LP/J, RF/J, SEA/Gn, ST/BJ, and 129/J strains and our population of Swiss albino mice have the Hmaa allele. Hmaa is dominant to Hmab, which is found in the C57BL/6J, C57BL/KsJ, C58/J, LT/Sv, MA/MyJ, SJL/J, and SWR/J strains. Both alleles are found in feral Mus musculus. In our conditions, homozygotes for Hmab have two major bands of HPRT activity after electrophoresis of extracts of erythrocytes and of other tissues. Heterozygotes and Hmaa homozygotes have three bands in erythrocyte extracts but two band in other tissues.
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PMID:Isoenzyme pattern of HPRT in murine erythrocytes: control by an autosomal locus. 54 25

Aryl hydrocarbon (benzo[a]pyrene) hydroxylase inducibility by benzo[a]anthracene was studied in 29 somatic cell hybrid clones, developed by fusing mouse spleen or peritoneal cells from four different inbred strains with hypoxanthine phosphoribosyltransferase-deficient Chinese hamster E36 cells. Karyotype analysis plus 25 markers assigned to 16 autosomes and the X chromosome were examined. In 28 of the 29 clones, the presence or absence of inducibility is associated with the presence or absence, respectively, of mouse chromosome 17. Liver microsomal aryl hydrocarbon hydroxylase induction by 3-methylcholanthrene or benzo[a]anthracene was assessed in appropriate backcrosses with the Mus musculus molossinus, M. m. castaneus, MOR/Cv, PL/J, SM/J and DBA/2J inbred strains and in 13 NX8 recombinant inbred lines. Twenty-seven biochemical genetic markers representing all but four autosomes were tested for possible linkage with the hydroxylase inducibility, and no linkage was found. The hepatic Ah receptor was quantitated in 26 BXD recombinant inbred lines; the Ah phenotype did not match exactly any of the more than 70 genes with established strain distribution patterns representing 12 autosomes and at least five unlinked markers. It is concluded that a major gene controlling aryl hydrocarbon hydroxylase inducibility by benzo[a]anthracene is located on chromosome 17. Because there is no significant linkage with any of three biochemical markers in the upper third of the chromosome, we conclude that the inducibility gene is located in the distal 40% of mouse chromosome 17. Whether this trait represents the Ah locus, i.e., the gene encoding the cytosolic Ah receptor, will require further study.
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PMID:Aryl hydrocarbon hydroxylase induction by benzo[a]anthracene: regulatory gene localized to the distal portion of mouse chromosome 17. 654 99

Human umbilical cord blood stem cells have been used to reconstitute hematopoiesis in patients with malignant and nonmalignant diseases. The immunologic immaturity of cord blood cells confers peculiar characteristics to these hematopoietic precursors. Autopsy reports from January 1, 1988, through June 30, 1998, were searched for patients who had received an umbilical cord blood transplant (UCBT). Thirty-two patients (19 male, 13 female) were identified with a mean age at autopsy of 13.0 years with a range from 1 to 52 years. Most patients (24) underwent UCBT for treatment of a malignant neoplasm, while the remainder were treated for immunodeficiencies (4), Lesch-Nyhan syndrome (2), Hurler syndrome (1), and Diamond-Blackfan syndrome (1). Sixteen patients had at least 1 infectious complication, and 8 patients had multiple infections. Organisms included mycoses (7 patients), viruses (8 patients), bacteria (3 patients), and Toxoplasma (2 patients). Hemorrhagic complications, such as intra-alveolar hemorrhage and gastrointestinal tract hemorrhage, were found in 24 patients. Other frequent findings at autopsy included diffuse alveolar damage (15 patients), hepatic veno-occlusive disease (11 patients), and acute or chronic graft-vs-host disease (9 patients). Patients who have received UCBT represent a unique population of immunosuppressed patients. Infectious and hemorrhagic complications frequently are encountered at autopsy, and pathologists performing autopsies on these patients should be alert to unusual pathogens.
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PMID:Autopsy findings in umbilical cord blood transplant recipients. 1047 38