Suppr超能文献

从患有各种类型腺嘌呤磷酸核糖转移酶缺陷的个体中建立B细胞系并进行表征。

Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies.

作者信息

Nobori T, Kamatani N, Mikanagi K, Nishida Y, Nishioka K

出版信息

Biochem Biophys Res Commun. 1986 Jun 30;137(3):998-1005. doi: 10.1016/0006-291x(86)90324-4.

DOI:10.1016/0006-291x(86)90324-4
PMID:3488062
Abstract

Patients with 2,8-dihydroxyadenine urolithiasis are either completely or partially deficient in adenine phosphoribosyltransferase activities. Patients with partial enzyme deficiencies, all of whom have been found among Japanese, are homozygotes having a unique mutant adenine phosphoribosyltransferase gene (APRT*J) in double dose (Japanese type deficiency). We have established B-cell lines from heterozygotes and homozygotes of complete and Japanese type adenine phosphoribosyltransferase deficiencies as well as normal individuals. Characterization of the cell lines indicated that all homozygous cells were deficient in adenine phosphoribosyltransferase function while all heterozygous and normal cells had functional adenine phosphoribosyltransferase.

摘要

患有2,8 - 二羟基腺嘌呤尿石症的患者，其腺嘌呤磷酸核糖转移酶活性完全或部分缺乏。部分酶缺乏的患者（均为日本人）是纯合子，其具有独特的突变腺嘌呤磷酸核糖转移酶基因（APRT*J），呈双倍剂量（日本型缺乏）。我们已经从完全型和日本型腺嘌呤磷酸核糖转移酶缺乏的杂合子、纯合子以及正常个体中建立了B细胞系。对这些细胞系的特性分析表明，所有纯合细胞均缺乏腺嘌呤磷酸核糖转移酶功能，而所有杂合细胞和正常细胞均具有功能性腺嘌呤磷酸核糖转移酶。

相似文献

1
Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies.从患有各种类型腺嘌呤磷酸核糖转移酶缺陷的个体中建立B细胞系并进行表征。
Biochem Biophys Res Commun. 1986 Jun 30;137(3):998-1005. doi: 10.1016/0006-291x(86)90324-4.
2
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.日本2,8-二羟基腺嘌呤尿石症和腺嘌呤磷酸核糖转移酶缺乏症患者的分布情况。
J Urol. 1988 Dec;140(6):1470-2. doi: 10.1016/s0022-5347(17)42075-1.
3
Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.
Hum Genet. 1985;71(2):167-70. doi: 10.1007/BF00283376.
4
Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.来自四个不同日本家族的与部分酶缺陷相关的2,8 - 二羟基腺嘌呤尿路结石的突变腺嘌呤磷酸核糖转移酶的共同特征。
Hum Genet. 1985;71(2):171-6. doi: 10.1007/BF00283377.
5
Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase.腺嘌呤代谢严重受损，伴有腺嘌呤磷酸核糖转移酶部分缺乏。
Metabolism. 1985 Feb;34(2):164-8. doi: 10.1016/0026-0495(85)90127-1.
6
Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.选择在单个细胞中具有两种不同类型突变的人类细胞（遗传/人工突变体）。应用于腺嘌呤磷酸核糖基转移酶缺乏症杂合状态的诊断。
Hum Genet. 1987 Jun;76(2):148-52. doi: 10.1007/BF00284912.
7
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.对19个腺嘌呤磷酸核糖转移酶缺乏症家族的遗传学和临床研究。
Hum Genet. 1987 Feb;75(2):163-8. doi: 10.1007/BF00591080.
8
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.人类腺嘌呤磷酸核糖转移酶缺乏症。日本人群中常见单一突变等位基因的证明。
J Clin Invest. 1988 Mar;81(3):945-50. doi: 10.1172/JCI113408.
9
Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT.与2,8 - 二羟基腺嘌呤尿路结石相关的部分和完全腺嘌呤磷酸核糖转移酶缺乏症：腺嘌呤磷酸核糖转移酶的动力学和免疫化学特性
Enzyme. 1987;37(4):182-8. doi: 10.1159/000469260.
10
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.一例腺嘌呤磷酸核糖转移酶缺乏症（APRT*J/APRT*Q0）复合杂合子导致2,8-二羟基腺嘌呤尿路结石：日本2,8-二羟基腺嘌呤结石报告病例综述
J Urol. 1993 Apr;149(4):824-6. doi: 10.1016/s0022-5347(17)36222-5.

引用本文的文献

1
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.对19个腺嘌呤磷酸核糖转移酶缺乏症家族的遗传学和临床研究。
Hum Genet. 1987 Feb;75(2):163-8. doi: 10.1007/BF00591080.
2
Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.选择在单个细胞中具有两种不同类型突变的人类细胞（遗传/人工突变体）。应用于腺嘌呤磷酸核糖基转移酶缺乏症杂合状态的诊断。
Hum Genet. 1987 Jun;76(2):148-52. doi: 10.1007/BF00284912.
3
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.人类腺嘌呤磷酸核糖转移酶缺乏症。日本人群中常见单一突变等位基因的证明。
J Clin Invest. 1988 Mar;81(3):945-50. doi: 10.1172/JCI113408.
4
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.通过序列特异性蛋白质切割检测一种特殊类型腺嘌呤磷酸核糖转移酶（APRT）缺乏症突变酶中的氨基酸取代。
Am J Hum Genet. 1989 Aug;45(2):325-31.
5
A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.日本受试者中I型腺嘌呤磷酸核糖转移酶缺乏症常见的一种突变等位基因。
Am J Hum Genet. 1991 Jan;48(1):103-7.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验