• 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

人类次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶：从一名莱施 - 奈恩综合征患者（HPRTMidland）分离出的cDNA克隆中的单核苷酸替换。

Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).

作者信息

Davidson B L, Palella T D, Kelley W N

机构信息

Department of Internal Medicine, University of Michigan Medical School, Ann Arbor 48109.

出版信息

Gene. 1988 Aug 15;68(1):85-91. doi: 10.1016/0378-1119(88)90601-4.

DOI:10.1016/0378-1119(88)90601-4
PMID:3265398
Abstract

We have determined the molecular basis for hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in a patient, J.H., with Lesch-Nyhan syndrome. Radioimmunoassay of lysates of erythrocytes or cultured B-lymphoblasts showed that this patient had no detectable HPRT enzyme activity or HPRT protein. HPRT-specific mRNA levels were normal by Northern analysis. We created a cDNA library from mRNA isolated from cultured lymphoblasts derived from this patient. Nucleotide sequencing of full-length HPRT cDNA clones revealed a single nucleotide (nt) substitution: a T-to-A transversion at nt 389. We have designated this variant HPRTMidland. The predicted amino acid (aa) substitution in HPRTMidland is a valine to aspartic acid at aa 130. This substitution is within 2 aa of the amino acid substitution in a previously defined HPRT variant, HPRTAnn Arbor. Both mutations are within a highly conserved sequence in the putative 5-phosphoribosyl-1-pyrophosphate-binding domain. The amino acid substitution in HPRTMidland causes a significant perturbation in the predicted secondary structure of this region. The HPRTMidland mutation affects a different domain of HPRT than the HPRTFlint mutation located at 167 nt away.

摘要

我们已经确定了患有莱施-奈恩综合征的患者J.H.中次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）缺乏的分子基础。对红细胞或培养的B淋巴细胞裂解物进行放射免疫分析表明，该患者未检测到HPRT酶活性或HPRT蛋白。通过Northern分析，HPRT特异性mRNA水平正常。我们从该患者培养的淋巴细胞中分离出的mRNA构建了一个cDNA文库。全长HPRT cDNA克隆的核苷酸测序揭示了一个单核苷酸（nt）替换：第389位核苷酸处的T到A颠换。我们将这个变体命名为HPRTMidland。HPRTMidland中预测的氨基酸（aa）替换是第130位氨基酸处的缬氨酸到天冬氨酸。这个替换与先前定义的HPRT变体HPRTAnn Arbor中的氨基酸替换在2个氨基酸之内。这两个突变都在假定的5-磷酸核糖-1-焦磷酸结合域的高度保守序列内。HPRTMidland中的氨基酸替换导致该区域预测二级结构的显著扰动。HPRTMidland突变影响的HPRT结构域与位于167 nt处的HPRTFlint突变不同。

相似文献

1
Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).人类次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶：从一名莱施 - 奈恩综合征患者（HPRTMidland）分离出的cDNA克隆中的单核苷酸替换。
Gene. 1988 Aug 15;68(1):85-91. doi: 10.1016/0378-1119(88)90601-4.
2
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).莱施-奈恩综合征（HPRTFlint）患者次黄嘌呤鸟嘌呤磷酸核糖基转移酶缺乏的遗传基础。
Gene. 1988 Mar 31;63(2):331-6. doi: 10.1016/0378-1119(88)90536-7.
3
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.
4
Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale).次黄嘌呤-鸟嘌呤磷酸核糖转移酶基因（HPRTYale）单核苷酸改变所致的莱施-奈恩综合征。
Adv Exp Med Biol. 1989;253A:135-8. doi: 10.1007/978-1-4684-5673-8_21.
5
Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.一个中国家庭中莱施-奈恩综合征HPRT突变的基因分析。
Zhonghua Yi Xue Za Zhi (Taipei). 1995 Dec;56(6):359-66.
6
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.鉴定次黄嘌呤-鸟嘌呤磷酸核糖转移酶基因（HPRT耶鲁）中导致莱施-奈恩综合征的单核苷酸变化。
J Clin Invest. 1989 Jan;83(1):11-3. doi: 10.1172/JCI113846.
7
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.
8
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.次黄嘌呤磷酸核糖基转移酶缺乏症表型变异体中突变的特征分析。
Hum Mol Genet. 1992 Sep;1(6):427-32. doi: 10.1093/hmg/1.6.427.
9
[A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene].[一个因次黄嘌呤-鸟嘌呤磷酸核糖转移酶基因新的点突变导致莱施-奈恩综合征的日本家庭]
No To Shinkei. 1997 Nov;49(11):1009-13.
10
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.

引用本文的文献

1
Association between cigarette smoking and hypoxanthine guanine phosphoribosyltransferase activity.吸烟与次黄嘌呤鸟嘌呤磷酸核糖转移酶活性之间的关联。
Kaohsiung J Med Sci. 2005 Nov;21(11):495-501. doi: 10.1016/S1607-551X(09)70157-3.
2
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.
3
Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。两名部分缺陷患者中相同突变的遗传学证据。
J Clin Invest. 1988 Dec;82(6):2164-7. doi: 10.1172/JCI113839.
4
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.通过对体外扩增的互补DNA（cDNA）进行自动直接DNA测序来鉴定导致莱施-奈恩综合征的突变。
Proc Natl Acad Sci U S A. 1989 Mar;86(6):1919-23. doi: 10.1073/pnas.86.6.1919.
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
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.
9
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.