• 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

低密度脂蛋白受体基因突变的芬兰型：缺失基因及相应信使核糖核酸的分子特征

The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA.

作者信息

Aalto-Setälä K

机构信息

Recombinant DNA Laboratory, University of Helsinki, Finland.

出版信息

FEBS Lett. 1988 Jul 18;234(2):411-6. doi: 10.1016/0014-5793(88)80127-3.

DOI:10.1016/0014-5793(88)80127-3
PMID:3391282
Abstract

In one third of Finnish patients with the heterozygous form of familial hypercholesterolemia the disease is due to a gross deletion at the 3'-end of the LDL receptor gene. The present study demonstrates that an 8-kb deletion completely eliminates exons 16 and 17 and a part of exon 18. Cloning and partial sequencing of a DNA fragment from the mutated allele indicated that the 5'-boundary of the deletion lies within intron 15 while the 3'-breakpoint is located at nucleotide 3390 in exon 18. RNA blot hybridization studies revealed that the mutated allele encodes a truncated 4.2 kb mRNA (normal, 5.3 kb). This type of mutation has not been reported in other ethnic groups.

摘要

在三分之一的芬兰杂合型家族性高胆固醇血症患者中，该病是由于低密度脂蛋白受体基因3'端的大片段缺失所致。本研究表明，一个8 kb的缺失完全消除了外显子16和17以及外显子18的一部分。对来自突变等位基因的DNA片段进行克隆和部分测序表明，缺失的5'边界位于内含子15内，而3'断点位于外显子18的第3390个核苷酸处。RNA印迹杂交研究显示，突变等位基因编码一个截短的4.2 kb mRNA（正常为5.3 kb）。这种类型的突变在其他种族群体中尚未见报道。

相似文献

1
The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA.低密度脂蛋白受体基因突变的芬兰型：缺失基因及相应信使核糖核酸的分子特征
FEBS Lett. 1988 Jul 18;234(2):411-6. doi: 10.1016/0014-5793(88)80127-3.
2
Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.芬兰型低密度脂蛋白受体基因突变（FH-赫尔辛基）缺失了编码受体羧基末端部分的外显子，并产生内化缺陷型表型。
J Clin Invest. 1989 Aug;84(2):499-505. doi: 10.1172/JCI114192.
3
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.家族性高胆固醇血症（FH）-北卡累利阿低密度脂蛋白受体基因突变缺失外显子6的七个核苷酸，是芬兰FH的常见病因。
J Clin Invest. 1992 Jul;90(1):219-28. doi: 10.1172/JCI115839.
4
Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza).
J Lipid Res. 1993 Aug;34(8):1347-54.
5
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.
6
Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia.家族性高胆固醇血症中低密度脂蛋白受体回收功能受损突变体的分析。
J Biol Chem. 1989 Oct 5;264(28):16584-90.
7
A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.低密度脂蛋白受体基因中的一种新型缺失/倒位突变是杂合子家族性高胆固醇血症的病因。
Hum Mutat. 1996;8(4):326-32. doi: 10.1002/(SICI)1098-1004(1996)8:4<326::AID-HUMU5>3.0.CO;2-5.
8
Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia.
Arterioscler Thromb Vasc Biol. 1995 Jan;15(1):81-8. doi: 10.1161/01.atv.15.1.81.
9
Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland.芬兰主要低密度脂蛋白受体基因重排的患病率及地理分布
J Intern Med. 1992 Mar;231(3):227-34. doi: 10.1111/j.1365-2796.1992.tb00528.x.
10
Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.在一名家族性高胆固醇血症患者中，Alu-Alu重组删除了剪接受体位点并产生了分泌型低密度脂蛋白受体。
J Biol Chem. 1987 Mar 5;262(7):3354-61.

引用本文的文献

1
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.俄罗斯的家族性高胆固醇血症：三十年的遗传学研究
Front Genet. 2020 Dec 17;11:550591. doi: 10.3389/fgene.2020.550591. eCollection 2020.
2
Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis.
Hum Genet. 1993 Jun;91(5):480-4. doi: 10.1007/BF00217776.
3
Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.芬兰型低密度脂蛋白受体基因突变（FH-赫尔辛基）缺失了编码受体羧基末端部分的外显子，并产生内化缺陷型表型。
J Clin Invest. 1989 Aug;84(2):499-505. doi: 10.1172/JCI114192.
4
Genetic basis of lipoprotein disorders.脂蛋白紊乱的遗传基础。
J Clin Invest. 1989 Aug;84(2):373-80. doi: 10.1172/JCI114176.
5
Genetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia.载脂蛋白B基因位点的基因多态性影响家族性高胆固醇血症患者的血清低密度脂蛋白胆固醇水平。
Hum Genet. 1989 Jul;82(4):305-7. doi: 10.1007/BF00273986.
6
Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia.利用低密度脂蛋白受体基因的三种DNA多态性诊断家族性高胆固醇血症。
Hum Genet. 1990 Apr;84(5):412-6. doi: 10.1007/BF00195811.
7
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.家族性高胆固醇血症（FH）-北卡累利阿低密度脂蛋白受体基因突变缺失外显子6的七个核苷酸，是芬兰FH的常见病因。
J Clin Invest. 1992 Jul;90(1):219-28. doi: 10.1172/JCI115839.