共查询到20条相似文献,搜索用时 15 毫秒
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R. P. Cox M. R. Krauss M. E. Balis L. C. Yip V. Jansen J. Dancis 《Experimental cell research》1974,88(2):289-294
Phytohemagglutinin (PHA) markedly stimulates 3H-hypoxanthine incorporation by lymphocytes of normal subjects as revealed by radioautography. There is no corresponding increase in activity of hypoxanthine phosphoribosyltransferase (HPRT) in lysates but the level of phosphoribosylpyrophosphate (PRPP), the cosubstrate for the reaction, is higher. Lymphocytes from a patient with partial HPRT deficiency responded to PHA as did the normals, whereas the response in Lesch-Nyhan (LN) subjects was variable. PHA-stimulated lymphocytes from two LN patients showed some increase in 3H-hypoxanthine incorporation, while two others failed to respond. The observations provide further evidence of genetic heterogeneity among LN patients. 相似文献
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Torres RJ DeAntonio I Prior C Puig JG 《Nucleosides, nucleotides & nucleic acids》2004,23(8-9):1177-1179
We have examined the effect of hypoxanthine on adenosine transport and [3H] NBTI binding in peripheral blood lymphocytes (PBL) cultures. Pre-incubation with hypoxanthine originates a dose dependent decrease of adenosine transport and [3H] NBTI binding sites in PBL. 相似文献
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We postulated that increased levels of hypoxanthine, a main characteristic of hypoxanthine phosphoribosyltransferase (HPRT) deficiency, may influence adenosine function which could be related to some of the neurological features of the Lesch-Nyhan syndrome. We have examined the effect of hypoxanthine on different adenosine transporters in peripheral blood lymphocytes from control subjects. Increased hypoxanthine concentrations (25 microM) significantly decreased adenosine transport. The equilibrative adenosine transporters (79.6% of the adenosine transport), both NBTI sensitive and NBTI insensitive, were affected significantly. In contrast, the concentrative adenosine transporters were not influenced by hypoxanthine. These results supports the hypothesis that increased hypoxanthine levels influence equilibrative (predominantly NBTI-insensitive type) adenosine transporters. 相似文献
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Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families 总被引:31,自引:0,他引:31
The Lesch-Nyhan (LN) syndrome is a genetically lethal human neurological disease that results from mutations that inactivate the hypoxanthine phosphoribosyltransferase (HPRT) gene. The elucidation of the complete DNA sequence of the human HPRT gene locus has enabled the construction of multiple oligonucleotide primer sets for the simultaneous in vitro amplification of all nine HPRT exons. The multiplex polymerase chain reaction provides a facile assay for the detection of HPRT exon deletions and the reaction products can be analyzed by direct automated fluorescent DNA sequencing to identify subtle alterations in the gene. Alterations have been identified in the HPRT genes from 15 independent LN cases, and 10 LN family studies were performed. The sequencing method uses solid supports and is sufficiently simple and sensitive to be a favored approach for LN diagnosis. LN heterozygotes can be diagnosed without reference to the affected male. In addition, these procedures will be useful for somatic mutagenesis studies. 相似文献
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O'Neill JP 《Genetic testing》2004,8(1):51-64
Mutations in the X chromosome hypoxanthine-guanine phosphoribosyl transferase (HPRT) gene are responsible for Lesch-Nyhan syndrome and related diseases in humans. Because the gene is on the X chromosome, males are affected and females in the families are at risk of being carriers of the mutation. Because there are so many different mutations that can cause the disease (218 different mutations in 271 families), genetic testing for carrier status of females requires detailed molecular analysis of the familial mutation. This analysis can be complicated by the unavailability of an affected male for study. In addition, when the mutation is a deletion (34 reported instances), molecular analysis in females is difficult because of the two X chromosomes. We have applied a peripheral blood T lymphocyte cloning assay that uses resistance to the purine analogue 6-thioguanine (TG) to measure the frequency of cells in females expressing a mutant HPRT allele to determine mutation carrier status in 123 females in 61 families. In families in which the HPRT mutation was determined and could be easily analyzed in samples from females, we found a mean (+/- SD) mutant frequency of 9.7 (+/- 8.7) x 10(-6) in noncarrier females and 2.9 (+/- 3.0) x 10(-2) in carrier females. The frequency in carrier females is less than the 0.5 expected for nonrandom X inactivation because of in vivo selection against HPRT mutation-expressing T lymphocytes or stem cells during prenatal development. The use of this cloning assay allows determination of the carrier status of females even when the HPRT mutation is not yet known or is difficult to determine in DNA samples from females. This approach provides a rapid assay that yields information on carrier status within 10 days of sample receipt. 相似文献
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Torres RJ DeAntonio I Prior C Puig JG 《Nucleosides, nucleotides & nucleic acids》2004,23(8-9):1193-1196
We have analysed adenosine transport and [3H] NBTI binding in peripheral blood lymphocytes obtained from Lesch-Nyhan patients, in basal conditions and following 24 h incubation with hypoxanthine. We found that adenosine transport and [3H] NBTI binding were significantly decreased in PBL-LN with respect to PBL-C in basal conditions. Following 25 microM hypoxanthine incubation, adenosine transport is decreased in PBL-LN with respect to basal transport, however, [3H] NBTI binding in PBL-LN was not decreased following hypoxanthine incubation. 相似文献
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Lesch-Nyhan syndrome. Management and treatment 总被引:2,自引:0,他引:2
J E Seegmiller 《Federation proceedings》1968,27(4):1097-1104
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W L Nyhan 《Federation proceedings》1968,27(4):1034-1041
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W. L. Anderson C. G. Chase T. B. Tomasi 《In vitro cellular & developmental biology. Plant》1982,18(9):766-774
Summary Transferrin was tested for its ability to replace serum in supporting mitogen and allogeneic cell stimulated human lymphocyte
proliferation. Although transferrin, at concentrations greater than 5 μg/ml, was incapable of completely replacing the serum
used to support phytohemagglutinin, Concanavalin A, and pokeweed mitogen, stimulated human lymphocytes, in the absence of
serum it significantly augmented the proliferative responses observed for mitogen, yet not allogeneically-stimulated cells.
Augmentation is not due to a nonspecific protein effect and appears to be independent of the metal content of transferrin.
The mechanism of growth support appears to involve an effect of transferrin following the G1 phase in the initial cell cycle.
This work was supported by NIH Grants AM-17554 and AI-05155. 相似文献
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Intercellular communication in stimulated human lymphocytes 总被引:1,自引:0,他引:1
G M Oliveira-Castro M A Barcinski S Cukierman 《Journal of immunology (Baltimore, Md. : 1950)》1973,111(5):1616-1619
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Incorporation of isolated chromosomes and induction of hypoxanthine phosphoribosyltransferase in Chinese hamster cells. 总被引:1,自引:0,他引:1
Evidence is presented for the uptake of radioactive-labeled isolated Chinese hamster chromosomes following incubation with Chinese hamster cells. Metaphases were found which contained radioactive labeled chromosomes in a very low frequency, and in some of the labeled chromosomes only one chromatid was labeled. Incubation of hypoxanthine phosphoribosyltransferas (HPRT)-deficient Chinese hamster cells with chromosomes isolated from HPRT+ Chinese hamster or human cells resulted in the appearance of HPRT+ cells. Clones derived from these cells were isolated in HAT medium. Cells in mitosis during incubation with the chromosomes yielded thr-e times more HPRT+ clones than did cells in interphase. The intraspecies combination involving recipient cells and chromosomes from Chinese hamster origin yielded significantly higher numbers of HPRT+ clones than did the interspecies system using human chromsomes and Chinese hamster recipient cells (5 X 10(-5) and 6 X 10(-6) respectively). Electrophoresis of HPRT from Chinese hamster cells treated with human chromosomes revealed the pattern of the human enzyme. 相似文献
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Athetotic cerebral palsy was diagnosed in a 6-month-old boy with no history of perinatal trauma. Lesch-Nyhan syndrome (i.e., complete deficiency of hypoxanthine-guanine phosphoribosyltransferase [HGPRT] ) was diagnosed only when the boy began biting his lower lip at the age of 10 years. It is suggested, on the basis of this case and others like it in the literature, that the delayed onset or absence of self-mutilation in patients with Lesch-Nyhan syndrome may be more common than has been previously suspected. In all males said to have cerebral palsy, HGPRT deficiency must be ruled out, preferably by measuring the ratio of uric acid to creatinine in a random urine specimen. 相似文献
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Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout 总被引:5,自引:0,他引:5
W N Kelley 《Federation proceedings》1968,27(4):1047-1052
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Seminars on Lesch-Nyhan syndrome. Aspects of purine metabolism 总被引:1,自引:0,他引:1
M E Balis 《Federation proceedings》1968,27(4):1067-1074