• 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

在一名家族性高胆固醇血症患者中鉴定低密度脂蛋白（LDL）受体基因的缺失。

Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia.

作者信息

Horsthemke B, Kessling A M, Seed M, Wynn V, Williamson R, Humphries S E

出版信息

Hum Genet. 1985;71(1):75-8. doi: 10.1007/BF00295672.

DOI:10.1007/BF00295672
PMID:2993159
Abstract

DNA samples from 60 unrelated UK patients with familial hypercholesterolaemia (FH) were screened by Southern blot hybridisation to detect gross alterations in the low density lipoprotein (LDL) receptor gene. One patient was found to have a 2kb deletion in the 3' part of the gene. The deletion cosegregates with the FH phenotype in his family. This finding is compatible with the deletion being the cause of FH in this case and makes a presymptomatic test based on DNA analysis available for this family. The defects in most of the other patients are likely to be due to point mutations.

摘要

通过Southern印迹杂交技术，对60名来自英国、无亲缘关系的家族性高胆固醇血症（FH）患者的DNA样本进行筛查，以检测低密度脂蛋白（LDL）受体基因的总体变化。发现一名患者的该基因3'端有一个2kb的缺失。在其家族中，该缺失与FH表型共分离。这一发现与该缺失是此病例中FH病因的观点相符，并使得基于DNA分析的症状前检测可应用于这个家族。其他大多数患者的缺陷可能是由点突变所致。

相似文献

1
Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia.在一名家族性高胆固醇血症患者中鉴定低密度脂蛋白（LDL）受体基因的缺失。
Hum Genet. 1985;71(1):75-8. doi: 10.1007/BF00295672.
2
Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).导致家族性高胆固醇血症（FH）的低密度脂蛋白（LDL）受体基因中六个部分缺失的特征分析。
Am J Hum Genet. 1988 Jul;43(1):60-8.
3
DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia.丹麦家族性高胆固醇血症家族中低密度脂蛋白（LDL）受体基因的DNA缺失
Clin Genet. 1991 Jun;39(6):451-62. doi: 10.1111/j.1399-0004.1991.tb03057.x.
4
Identification of deletions in the human low density lipoprotein receptor gene.人类低密度脂蛋白受体基因中缺失的鉴定
J Med Genet. 1987 Mar;24(3):144-7. doi: 10.1136/jmg.24.3.144.
5
Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia.
Hum Genet. 1989 Jul;82(4):317-21. doi: 10.1007/BF00273989.
6
Identification of a deletion in the LDL receptor gene. A Finnish type of mutation.低密度脂蛋白受体基因缺失的鉴定。一种芬兰类型的突变。
FEBS Lett. 1988 Mar 28;230(1-2):31-4. doi: 10.1016/0014-5793(88)80635-5.
7
A study of familial hypercholesterolaemia in Iceland using RFLPs.一项使用限制性片段长度多态性（RFLPs）对冰岛家族性高胆固醇血症的研究。
J Med Genet. 1989 Aug;26(8):494-8. doi: 10.1136/jmg.26.8.494.
8
Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia.意大利家族性高胆固醇血症患者低密度脂蛋白受体基因突变的三种突变特征分析。
Arterioscler Thromb. 1991 Mar-Apr;11(2):234-43. doi: 10.1161/01.atv.11.2.234.
9
Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama.低密度脂蛋白受体基因座的新型基因突变：FH-金泽和FH-冈山。
J Intern Med. 1990 Apr;227(4):247-51. doi: 10.1111/j.1365-2796.1990.tb00153.x.
10
Familial hypercholesterolaemia and LDL receptor mutations.家族性高胆固醇血症与低密度脂蛋白受体突变
J Intern Med. 1992 Jun;231(6):633-41. doi: 10.1111/j.1365-2796.1992.tb01252.x.

引用本文的文献

1
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.丹麦家族性高胆固醇血症患者低密度脂蛋白受体基因五个缺失的基因组特征分析
BMC Med Genet. 2006 Jun 26;7:55. doi: 10.1186/1471-2350-7-55.
2
Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.苏格兰西部常见低密度脂蛋白受体突变（C163Y）的鉴定。
J Med Genet. 1998 Jul;35(7):573-8. doi: 10.1136/jmg.35.7.573.
3
Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia.

本文引用的文献

1
The use of polymorphic DNA and protein markers for the third complement component for determining linkage of familial hypercholesterolaemia.利用多态性DNA和蛋白质标记物检测第三补体成分，以确定家族性高胆固醇血症的连锁关系。
Atherosclerosis. 1984 Sep;52(3):267-78. doi: 10.1016/0021-9150(84)90056-x.
2
"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。附录
Anal Biochem. 1984 Feb;137(1):266-7. doi: 10.1016/0003-2697(84)90381-6.
3
The LDL receptor locus in familial hypercholesterolemia: multiple mutations disrupt transport and processing of a membrane receptor.
低密度脂蛋白受体基因中的六个DNA多态性：它们的遗传关系以及用于识别家族性高胆固醇血症患者受影响亲属的一个实例。
J Med Genet. 1993 Apr;30(4):273-9. doi: 10.1136/jmg.30.4.273.
4
Familial hypercholesterolaemia as an example of early diagnosis of coronary artery disease risk by DNA techniques.以家族性高胆固醇血症为例，说明通过DNA技术早期诊断冠状动脉疾病风险。
Br Heart J. 1986 Sep;56(3):201-5. doi: 10.1136/hrt.56.3.201.
5
Identification of deletions in the human low density lipoprotein receptor gene.人类低密度脂蛋白受体基因中缺失的鉴定
J Med Genet. 1987 Mar;24(3):144-7. doi: 10.1136/jmg.24.3.144.
6
DNA markers in the hyperlipidaemias and atherosclerosis.高脂血症和动脉粥样硬化中的DNA标记物。
J R Coll Physicians Lond. 1987 Jan;21(1):51-4.
7
Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.家族性高胆固醇血症中的多个crm-突变。存在13个等位基因的证据，包括4个缺失。
J Clin Invest. 1988 Mar;81(3):909-17. doi: 10.1172/JCI113402.
8
Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.外显子-阿尔u重组从低密度脂蛋白受体基因中删除了5千个碱基对，在家族性高胆固醇血症中产生无效表型。
Proc Natl Acad Sci U S A. 1986 Jun;83(11):3679-83. doi: 10.1073/pnas.83.11.3679.
9
Diagnosis of genetic disease using recombinant DNA.使用重组DNA诊断遗传疾病。
Hum Genet. 1986 May;73(1):1-11. doi: 10.1007/BF00292654.
10
The use of recombinant DNA techniques for the diagnosis of familial hypercholesterolaemia.
J Inherit Metab Dis. 1988;11 Suppl 1:33-44. doi: 10.1007/BF01800569.
家族性高胆固醇血症中的低密度脂蛋白受体基因座：多种突变破坏膜受体的转运和加工。
Cell. 1983 Mar;32(3):941-51. doi: 10.1016/0092-8674(83)90079-x.
4
Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia.低密度脂蛋白受体的翻译后加工及其在家族性高胆固醇血症中的基因破坏。
Cell. 1982 Oct;30(3):715-24. doi: 10.1016/0092-8674(82)90276-8.
5
Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight.低密度脂蛋白受体的纯化，一种分子量为164,000的酸性糖蛋白。
J Biol Chem. 1982 Mar 10;257(5):2664-73.
6
The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA.人类低密度脂蛋白受体：一种在其信使核糖核酸中含有多个Alu序列的富含半胱氨酸的蛋白质。
Cell. 1984 Nov;39(1):27-38. doi: 10.1016/0092-8674(84)90188-0.
7
Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter.从含有噬菌体SP6启动子的质粒中高效体外合成生物活性RNA和RNA杂交探针。
Nucleic Acids Res. 1984 Sep 25;12(18):7035-56. doi: 10.1093/nar/12.18.7035.
8
Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia.冠心病中的高脂血症。II. 176个家族血脂水平的遗传分析及一种新的遗传性疾病——混合型高脂血症的描述
J Clin Invest. 1973 Jul;52(7):1544-68. doi: 10.1172/JCI107332.
9
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.人类家系中重组率的估计：人类连锁研究似然性的高效计算。
Am J Hum Genet. 1974 Sep;26(5):588-97.
10
Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man.家族性高胆固醇血症基因在杂合子中的表达：人类显性疾病的机制。
Science. 1974 Jul 5;185(4145):61-3. doi: 10.1126/science.185.4145.61.