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Rapid determination of hypoxanthine-guanine-phosphoribosyl transferase in human fibroblasts and amniotic cells.

作者信息

Willers I, Agarwal D P, Singh S, Schloot W, Goedde H W

出版信息

Humangenetik. 1975;27(4):323-8. doi: 10.1007/BF00278425.

DOI:10.1007/BF00278425
PMID:1150252
Abstract

A micromodification of the method of HGPRT and APRT assay is described, which measures the incorporation of 14C hypoxanthine and 14C adenine into cultured skin fibroblasts and amniotic cells grown on microtiter plates. Only about 10000 cells are needed per assay. By this method HGPRT deficient cells can be easily distinguished from normal cells. Investigations with respect to the effect of substrate concentrations and time of incubation have been carried out on some normal fibroblast cell lines, amniotic cell lines and 3 Lesch-Nyhan cell lines. Another modified method is described for quantitative determination of HGPRT activity by means of radio thin-layer chromatography.

摘要

相似文献

1
Rapid determination of hypoxanthine-guanine-phosphoribosyl transferase in human fibroblasts and amniotic cells.
Humangenetik. 1975;27(4):323-8. doi: 10.1007/BF00278425.
2
Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.
Biochim Biophys Acta. 1973 Mar 19;299(2):273-82. doi: 10.1016/0005-2787(73)90350-x.
3
Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome.莱施-奈恩综合征患者饮食诱导的次黄嘌呤-鸟嘌呤磷酸核糖基转移酶活性变化
J Clin Invest. 1973 Apr;52(4):970-3. doi: 10.1172/JCI107263.
4
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.一名具有莱施-奈恩综合征特征的聪明、未致残患者中一种次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）变体对嘌呤的利用情况。
Pediatr Res. 1979 Dec;13(12):1365-70. doi: 10.1203/00006450-197912000-00013.
5
Development of micro HG-PRT activity assay: preliminary complementation studies with Lesch-Nyhan cell strains.微量次黄嘌呤鸟嘌呤磷酸核糖转移酶活性测定法的开发：与莱施-奈恩细胞株的初步互补研究
Adv Exp Med Biol. 1974;41:811-5. doi: 10.1007/978-1-4757-1433-3_60.
6
Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.莱施-奈恩综合征患者家族中腺嘌呤磷酸核糖转移酶缺乏与次正常的次黄嘌呤磷酸核糖转移酶相关。
Biochem Med. 1978 Apr;19(2):252-9. doi: 10.1016/0006-2944(78)90027-3.
7
Lesch-Nyhan mutation: the influence of population density on purine phosphoribosyltransferase activities and exogenous purine utilization in monolayer cultures of skin fibroblasts.
J Cell Physiol. 1972 Aug;80(1):33-40. doi: 10.1002/jcp.1040800105.
8
Rapid tissue culture and microbiochemical methods for analyzing colonially grown fibroblasts from normal, Lesch-Nyhan and Tay-Sachs patients and amniotic fluid cells.用于分析来自正常、莱施-尼汉病和泰-萨克斯病患者的成纤维细胞集落培养物以及羊水细胞的快速组织培养和微生物化学方法。
Clin Genet. 1973;4(5):376-80. doi: 10.1111/j.1399-0004.1973.tb01163.x.
9
[Lesch-Nyhan disease studied in intact fibroblasts].[在完整成纤维细胞中研究的莱施-奈恩病]
An Esp Pediatr. 1983 May;18(5):394-8.
10
Role of glutamine in purine synthesis and in guanine nucleotide formation in normal fibroblasts and in fibroblasts deficient in hypoxanthine phosphoribosyltransferase activity.
Biochim Biophys Acta. 1973 Mar 19;299(2):283-92. doi: 10.1016/0005-2787(73)90351-1.

引用本文的文献

1
Phenotypic interaction studies of HPRT mutant and normal human fibroblasts.次黄嘌呤磷酸核糖转移酶（HPRT）突变型和正常人成纤维细胞的表型相互作用研究
Hum Genet. 1981;57(2):189-91. doi: 10.1007/BF00282020.
2
Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.莱施-奈恩综合征的快速产前诊断
J Med Genet. 1977 Apr;14(2):100-2. doi: 10.1136/jmg.14.2.100.

本文引用的文献

1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.与一种X连锁人类神经疾病及嘌呤过度合成相关的酶缺陷。
Science. 1967 Mar 31;155(3770):1682-4. doi: 10.1126/science.155.3770.1682.
3
The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis.通过圆盘凝胶电泳分离腺嘌呤和次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶同工酶。
Biochem Genet. 1971 Feb;5(1):81-90. doi: 10.1007/BF00485733.
4
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.X连锁次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症：通过选择培养基检测杂合子
Biochem Genet. 1970 Jun;4(3):377-83. doi: 10.1007/BF00485754.
5
An electrophoretic method for detecting hypoxanthine-guanine phosphoribosyl transferase variants.一种检测次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶变体的电泳方法。
Biochem Genet. 1969 Jun;3(3):299-302. doi: 10.1007/BF00521145.
6
In vitro effects of magnesium ions on mutant cells from patients with the Lesch-Nyhan syndrome.镁离子对莱施-奈恩综合征患者突变细胞的体外作用。
N Engl J Med. 1973 Aug 30;289(9):446-50. doi: 10.1056/NEJM197308302890903.
7
Transport of hypoxanthine in fibroblasts with normal and mutant hypoxanthine-guanine phosphoribosyltransferase.正常和突变型次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶在成纤维细胞中对次黄嘌呤的转运
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8
Purine and pyrimidine pool sizes and purine base utilization in human lymphocytes and cultured lymphoblasts.
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9
Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.莱施-奈恩综合征患者红细胞中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的电泳特性
Biochem Genet. 1972 Apr;6(2):139-46. doi: 10.1007/BF00486398.
10
Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.莱施-奈恩综合征：突变酶的动力学特性改变
Science. 1971 Feb 19;171(3972):689-91. doi: 10.1126/science.171.3972.689.