• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).

作者信息

Davidson B L, Pashmforoush M, Kelley W N, Palella T D

机构信息

Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor 48109.

出版信息

J Biol Chem. 1989 Jan 5;264(1):520-5.

PMID:2909537
Abstract

The genetic basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency has been identified by nucleotide sequence analysis of HPRT cDNAs cloned from a patient with gout. A single nucleotide change was identified in two independent clones: an A to G transition at nucleotide 602. Confirmation of a mutation at this site was provided by RNase mapping analysis. The predicted consequence of this transition is an aspartic acid to glycine substitution at amino acid 201. We have designated this variant HPRTAshville. Prior to this report, enzyme activity in HPRTAshville had not been detected by routine assay. Using more sensitive techniques, including an in situ gel assay for HPRT activity, we were able to demonstrate electrophoretic, kinetic, and structural differences between HPRTAshville and normal HPRT. Electrophoretic migration of HPRTAshville has elevated Michaelis constants for 5-phosphoribosyl-1-pyrophosphate and hypoxanthine. Predicted secondary structural alterations may result from the aspartic acid to glycine substitution.

摘要

相似文献

1
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
J Biol Chem. 1989 Jan 5;264(1):520-5.
2
Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.人次黄嘌呤（鸟嘌呤）磷酸核糖基转移酶：从一名痛风患者分离出的该酶突变形式中的氨基酸替代。
Proc Natl Acad Sci U S A. 1983 Feb;80(3):870-3. doi: 10.1073/pnas.80.3.870.
3
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症：日本莱施 - 奈恩综合征和遗传性痛风患者点突变的鉴定及其在HPRT缺陷小鼠细胞系中的永久表达。
Hum Genet. 1994 Feb;93(2):175-81. doi: 10.1007/BF00210606.
4
Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan.台湾983例痛风患者次黄嘌呤-鸟嘌呤磷酸核糖转移酶基因新单核苷酸突变的鉴定。
J Rheumatol. 2007 Apr;34(4):794-7. Epub 2007 Feb 15.
5
Normal HPRT coding region in a male with gout due to HPRT deficiency.
Mol Genet Metab. 2005 May;85(1):78-80. doi: 10.1016/j.ymgme.2005.01.005. Epub 2005 Feb 16.
6
A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.莱施-奈恩综合征患者次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）假定的5-磷酸核糖-1-焦磷酸结合位点编码序列内的种系突变：功能重要区域内的错义突变可能导致疾病。
Hum Genet. 1992 Dec;90(4):385-8. doi: 10.1007/BF00220464.
7
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。通过限制性内切酶分析检测突变等位基因。
J Clin Invest. 1983 Sep;72(3):767-72. doi: 10.1172/JCI111047.
8
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.次黄嘌呤鸟嘌呤磷酸核糖转移酶（HPRT）缺陷的分子分析：新突变及日本突变谱
Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):570-4. doi: 10.1080/15257770802135869.
9
Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.对五个导致次黄嘌呤鸟嘌呤磷酸核糖转移酶（HPRT）缺乏的独立日本突变基因的分子分析。
Hum Genet. 1992 Dec;90(4):379-84. doi: 10.1007/BF00220463.
10
Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。痛风患者中一种突变体的特征。
J Clin Invest. 1975 Nov;56(5):1239-49. doi: 10.1172/JCI108200.

引用本文的文献

1
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.一个家族中 7 名低嘌呤核苷酸磷酸核糖转移酶缺乏症患者的表型变异。
Mol Genet Metab. 2013 Nov;110(3):268-74. doi: 10.1016/j.ymgme.2013.08.016. Epub 2013 Sep 8.
2
The genetics of rheumatoid arthritis: influences on susceptibility, severity, and treatment response.类风湿关节炎的遗传学：对易感性、严重程度及治疗反应的影响
Curr Rheumatol Rep. 1999 Dec;1(2):164-71. doi: 10.1007/s11926-999-0014-4.
3
A 13 base pair deletion in exon 1 of HPRTIllinois forms a functional GUG initiation codon.
Hum Genet. 1994 Mar;93(3):300-4. doi: 10.1007/BF00212027.
4
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症：日本莱施 - 奈恩综合征和遗传性痛风患者点突变的鉴定及其在HPRT缺陷小鼠细胞系中的永久表达。
Hum Genet. 1994 Feb;93(2):175-81. doi: 10.1007/BF00210606.
5
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.通过对扩增转录本进行直接测序确定的十名受试者次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症的分子基础。
J Clin Invest. 1989 Jul;84(1):342-6. doi: 10.1172/JCI114160.
6
Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.利用T淋巴细胞培养对莱施-奈恩综合征突变（hprt蒙特利尔）进行分子分析。
Hum Genet. 1990 Jun;85(1):111-6. doi: 10.1007/BF00276334.
7
Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症：首次在日本人中鉴定出导致莱施-奈恩综合征的核苷酸替代。
Hum Genet. 1990 Apr;84(5):483-6. doi: 10.1007/BF00195826.
8
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.鉴定导致人类次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）缺乏的17种独立突变。
Am J Hum Genet. 1991 May;48(5):951-8.
9
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症的分子基础综述。
Hum Genet. 1992 Nov;90(3):195-207. doi: 10.1007/BF00220062.