Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sodium selenite (Na2SeO3) sister-chromatid exchange (SCE) induction was studied in both short-term and long-term cell cultures. The ability of Na2SeO3 to induce SCEs was found to depend on the culture conditions employed. Concentrations of Na2SeO3 (7.90 X 10(-6) M and greater) that produced elevated SCE frequencies in whole blood cultures resulted in control level SCE frequencies (6-8 SCEs/cell) in Ficoll-Hypaque--purified lymphocyte cultures. However, whole blood and purified lymphocyte cultures were equally sensitive to SCE induction by methyl methanesulfonate (MMS), ethyl methanesulfonate (EMS), and N-hydroxy-2-acetylaminofluorene (N-OH-AAF). Analysis of different whole blood components showed that the presence of red blood cells (RBCs), and specifically RBC lysate, was a prerequisite for Na2SeO3 SCE induction in purified lymphocyte cultures. The SCE frequencies of xeroderma pigmentosum (XP12RO) and normal human lymphoblastoid cell lines were also found to be unaffected by Na2SeO3 concentrations that produced elevated SCE frequencies in whole blood cultures. Incubation of these latter two cell types with Na2SeO3 and RBC lysate resulted in SCE frequencies comparable to those in Na2SeO3-exposed whole blood cultures.
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PMID:Sister-chromatid exchange induction by sodium selenite: dependence on the presence of red blood cells or red blood cell lysate. 74 14

Validity of measurement of somatic cell mutation frequency (Mf) at the hprt locus for evaluating cancer risk of the given individual was determined in pediatric patients. Peripheral lymphocytes (PL) from patients with various diseases, including acute lymphoblastic leukemia (ALL) and Hodgkin's disease (HD), DNA repair deficient syndromes or short stature receiving growth hormone (GH), were isolated through Ficoll-Hypaque sedimentation with informed consent. Mf at the hprt locus of PL was determined by limiting dilution assay using 6-thioguanine (6-TG). Results were as follows. (1) ALL patients after chemotherapy had higher Mf than that of age-matched controls. (2) Patients with HD tended to have higher Mf after chemotherapy. (3) Among DNA-repair deficient syndromes, diseases which are susceptible to cancer (Xeroderma pigmentosum, Ataxia telangiectasia) have high Mf, but those without any cancer disposition (Cockayne syndrome, Rothmund-Thomson syndrome) have normal Mf. (4) GH-receiving patients have normal Mf, regardless of total doses of GH. Measurement of Mf at HPRT locus may be useful for evaluating cancer risk of pediatric patients.
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PMID:Measurement of mutation frequency at the HPRT locus in peripheral lymphocytes. Is this a good method to evaluate a cancer risk in pediatric patients? 959 52