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1
Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.莱施-奈恩综合征患者红细胞中次黄嘌呤磷酸核糖基转移酶交叉反应物质的放射免疫测定。
Proc Natl Acad Sci U S A. 1975 Oct;72(10):4147-50. doi: 10.1073/pnas.72.10.4147.
2
Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.次黄嘌呤磷酸核糖基转移酶缺乏症：催化活性降低与免疫可检测酶蛋白水平降低的关联。
Proc Natl Acad Sci U S A. 1975 Oct;72(10):4142-6. doi: 10.1073/pnas.72.10.4142.
3
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.次黄嘌呤-鸟嘌呤磷酸核糖转移酶：莱施-奈恩综合征患者红细胞中突变酶的特征
J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.
4
Hypoxanthine phosphoribosyltransferase: two-dimensional gels from normal and Lesch-Nyhan hemolyzates.次黄嘌呤磷酸核糖转移酶：来自正常和莱施-奈恩溶血产物的二维凝胶电泳
Science. 1977 Jun 3;196(4294):1119-20. doi: 10.1126/science.870972.
5
Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells.莱施-奈恩综合征的产前诊断以及人体组织和培养细胞中次黄嘌呤-鸟嘌呤磷酸核糖转移酶和腺嘌呤磷酸核糖转移酶的一些特性
Pediatr Res. 1980 Jun;14(6):825-9. doi: 10.1203/00006450-198006000-00010.
6
Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
Ciba Found Symp. 1977(48):97-104. doi: 10.1002/9780470720301.ch7.
7
Study of immunoreactive material in patients with deficient HPRT activity.
Adv Exp Med Biol. 1977;76A:361-9. doi: 10.1007/978-1-4613-4223-6_46.
8
Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase.
Ciba Found Symp. 1977(48):65-81. doi: 10.1002/9780470720301.ch5.
9
Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.使用滤纸上的干血斑对次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶和腺嘌呤磷酸核糖转移酶缺乏症进行的简易筛查方法。
Ann Clin Biochem. 1986 Sep;23 ( Pt 5):529-32. doi: 10.1177/000456328602300507.
10
Hypoxanthine-guanine phosphoribosyltransferase: a simple spectrophotometric assay.
Clin Chim Acta. 1977 Oct 1;80(1):203-7. doi: 10.1016/0009-8981(77)90280-7.

引用本文的文献

1
Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.人红细胞和培养成纤维细胞中次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶亚基组成的表征
Biochem Genet. 1980 Feb;18(1-2):1-19. doi: 10.1007/BF00504356.
2
HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.次黄嘌呤鸟嘌呤磷酸核糖转移酶结构基因突变在莱施-奈恩综合征中的表现：抗原活性及酶缺陷的回复所提示
Hum Genet. 1981;57(2):185-8. doi: 10.1007/BF00282019.
3
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.对因胱硫醚β-合酶缺乏导致的同型胱氨酸尿症患者的培养成纤维细胞进行的免疫化学研究。
Am J Hum Genet. 1982 Jan;34(1):73-83.
4
Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。源自该酶缺乏症患者的淋巴母细胞中结构变异体的证明。
J Clin Invest. 1982 Mar;69(3):706-15. doi: 10.1172/jci110499.
5
Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences.从小鼠神经母细胞瘤细胞系中克隆出次黄嘌呤/鸟嘌呤磷酸核糖转移酶基因的cDNA序列，该细胞系被发现具有扩增的基因组序列。
Proc Natl Acad Sci U S A. 1982 Mar;79(6):1950-4. doi: 10.1073/pnas.79.6.1950.
6
Protein variations associated with Lesch-Nyhan syndrome.与莱施-奈恩综合征相关的蛋白质变异。
Proc Natl Acad Sci U S A. 1981 Oct;78(10):6471-5. doi: 10.1073/pnas.78.10.6471.
7
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.莱施-奈恩综合征患者次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏的分子基础。
J Clin Invest. 1983 May;71(5):1331-5. doi: 10.1172/jci110884.
8
Basic defect in the expression of adenosine deaminase in ADA-SCID disease. II. Deficiency of ADA-CRM detected in heterozygote human-Chinese hamster cell hybrids.腺苷脱氨酶在腺苷脱氨酶严重联合免疫缺陷病（ADA - SCID）中的表达基本缺陷。II. 在人 - 中国仓鼠细胞杂合子中检测到ADA - CRM的缺乏。
Hum Genet. 1983;63(2):121-5. doi: 10.1007/BF00291530.
9
Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.对遗传性甲基丙二酸血症患者培养的成纤维细胞的免疫化学研究。
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7737-41. doi: 10.1073/pnas.78.12.7737.
10
Intracellular activity of HPRT Cape Town: purine uptake and growth of cultured cells in selective media.次黄嘌呤磷酸核糖转移酶（HPRT）开普敦株的细胞内活性：嘌呤摄取及在选择性培养基中培养细胞的生长
J Inherit Metab Dis. 1985;8(4):198-203. doi: 10.1007/BF01805435.

本文引用的文献

1
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.一种尿酸代谢与中枢神经系统功能的家族性疾病。
Am J Med. 1964 Apr;36:561-70. doi: 10.1016/0002-9343(64)90104-4.
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
Protein purification by affinity chromatography. Derivatizations of agarose and polyacrylamide beads.通过亲和色谱法进行蛋白质纯化。琼脂糖和聚丙烯酰胺珠粒的衍生化。
J Biol Chem. 1970 Jun;245(12):3059-65.
4
Human hypoxanthine-guanine phosphoribosyltransferase. Purification and subunit structure.人次黄嘌呤-鸟嘌呤磷酸核糖转移酶。纯化及亚基结构。
J Biol Chem. 1971 Dec 10;246(23):7398-404.
5
Solid state lactoperoxidase: a highly stable enzyme for simple, gentle iodination of proteins.固态乳过氧化物酶：一种用于蛋白质简单温和碘化的高度稳定的酶。
Biochem Biophys Res Commun. 1972 Jul 25;48(2):464-71. doi: 10.1016/s0006-291x(72)80074-3.
6
Subunit molecular weight of human hypoxanthine-guanine phosphoribosyltransferase.人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶的亚基分子量。
J Biol Chem. 1974 Jul 10;249(13):4038-40.
7
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.次黄嘌呤-鸟嘌呤磷酸核糖转移酶：莱施-奈恩综合征患者红细胞中突变酶的特征
J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.
8
Selective degradation of abnormal proteins in mammalian tissue culture cells.哺乳动物组织培养细胞中异常蛋白质的选择性降解。
Proc Natl Acad Sci U S A. 1974 Dec;71(12):4732-6. doi: 10.1073/pnas.71.12.4732.
9
Chinese hamster hypoxanthine-guanine phosphoribosyltransferase. Purification, structural, and catalytic properties.
J Biol Chem. 1974 Jul 10;249(13):4030-7.
10
Purification of IMP:pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease.次黄嘌呤单磷酸：焦磷酸磷酸核糖基转移酶的纯化，莱施-奈恩病中的催化失活酶
Proc Natl Acad Sci U S A. 1971 Jul;68(7):1461-4. doi: 10.1073/pnas.68.7.1461.

莱施-奈恩综合征患者红细胞中次黄嘌呤磷酸核糖基转移酶交叉反应物质的放射免疫测定。

Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.

作者信息

Ghangas G S, Milman G

出版信息

Proc Natl Acad Sci U S A. 1975 Oct;72(10):4147-50. doi: 10.1073/pnas.72.10.4147.

DOI:10.1073/pnas.72.10.4147
PMID:1060095
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC433156/
Abstract

We have developed a sensitive radioimmunoassay capable of detecting and quantitating 20 ng of hypoxanthine phosphoribosyltransferase (EC 2.4.2.8; IMP:pyrophosphate phosphoribosyltransferase) protein. For this assay, hypoxanthine phosphoribosyltransferase from human erythrocytes was iodinated with 125I under mild conditions using hydrogen peroxide and lactoperoxidase attached to Sepharose-4B. Antisera prepared against homogeneous human hypoxanthine phosphoribosyltransferase precipitates the iodinated enzyme as effectively as the unlabeled enzyme. The radioimmunoassay has been used to look for hypoxanthine phosphoribosyltransferase crossreacting material in hemolysates from sixteen different patients with a marked genetic deficiency of this enzyme characteristic of the Lesch-Nyhan syndrome. Fifteen hemolysates contained no detectable (less than 1% of normal) crossreacting material. One hemolysate contained a normal amount of crossreacting material. Hypoxanthine phosphoribosyltransferase from this patient (E.S.) has been shown to be a Km mutant enzyme.

摘要

我们开发了一种灵敏的放射免疫测定法，能够检测和定量20纳克的次黄嘌呤磷酸核糖转移酶（EC 2.4.2.8；IMP：焦磷酸磷酸核糖转移酶）蛋白。对于该测定法，在温和条件下，使用附着于琼脂糖-4B的过氧化氢和乳过氧化物酶，将来自人红细胞的次黄嘌呤磷酸核糖转移酶用125I进行碘化。针对纯合人次黄嘌呤磷酸核糖转移酶制备的抗血清沉淀碘化酶的效果与未标记的酶一样有效。该放射免疫测定法已用于在16名患有莱施-奈恩综合征特征性该酶明显遗传缺陷的不同患者的溶血产物中寻找次黄嘌呤磷酸核糖转移酶交叉反应物质。15份溶血产物中未检测到（低于正常的1%）交叉反应物质。一份溶血产物含有正常量的交叉反应物质。已证明该患者（E.S.）的次黄嘌呤磷酸核糖转移酶是一种Km突变酶。