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人类胆固醇酯转运蛋白基因定位于16号染色体q12 - q21区域。

Assignment of the human gene for cholesteryl ester transfer protein to chromosome 16q12-16q21.

作者信息

Lusis A J, Zollman S, Sparkes R S, Klisak I, Mohandas T, Drayna D, Lawn R M

机构信息

Department of Medicine, School of Medicine, University of California, Los Angeles 90024.

出版信息

Genomics. 1987 Nov;1(3):232-5. doi: 10.1016/0888-7543(87)90049-8.

DOI:10.1016/0888-7543(87)90049-8
PMID:3446583
Abstract

We have used a cDNA probe for human cholesteryl ester transfer protein (CETP) to determine the chromosomal location for the human gene. Southern blot analysis of DNA from 17 independent mouse-human somatic cell hybrids demonstrated the presence of the gene for human CETP on chromosome 16. Regional mapping of the gene by in situ hybridization was consistent with these results and indicated that the gene resides in the 16q12-21 region of the chromosome. These findings provide an additional polymorphic marker for chromosome 16, as several relatively common restriction fragment length polymorphisms of the gene have previously been reported, and they have significance for studies directed at the identification of genetic factors affecting plasma lipoprotein metabolism and atherosclerosis.

摘要

我们使用了一种针对人类胆固醇酯转运蛋白(CETP)的cDNA探针来确定该人类基因的染色体定位。对来自17个独立的小鼠-人类体细胞杂种的DNA进行的Southern印迹分析表明,人类CETP基因位于16号染色体上。通过原位杂交对该基因进行区域定位与这些结果一致,并表明该基因位于染色体的16q12 - 21区域。这些发现为16号染色体提供了另一个多态性标记,因为此前已经报道了该基因的几种相对常见的限制性片段长度多态性,并且它们对于旨在鉴定影响血浆脂蛋白代谢和动脉粥样硬化的遗传因素的研究具有重要意义。

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1
Assignment of the human gene for cholesteryl ester transfer protein to chromosome 16q12-16q21.人类胆固醇酯转运蛋白基因定位于16号染色体q12 - q21区域。
Genomics. 1987 Nov;1(3):232-5. doi: 10.1016/0888-7543(87)90049-8.
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引用本文的文献

1
Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP.CETP 基因变异通过减少分泌型 CETP 的数量而非特定脂质转移活性来影响 HDL 胆固醇水平。
PLoS One. 2023 Dec 1;18(12):e0294764. doi: 10.1371/journal.pone.0294764. eCollection 2023.
2
Association of Cholesteryl Ester Transfer Protein (CETP) Gene -629C/A Polymorphism with Angiographically Proven Atherosclerosis.胆固醇酯转运蛋白(CETP)基因-629C/A多态性与血管造影证实的动脉粥样硬化的关联
Indian J Clin Biochem. 2017 Jun;32(2):235-238. doi: 10.1007/s12291-016-0585-6. Epub 2016 Jun 11.
3
Evaluation of G-to-A substitution in the apolipoprotein A-I gene promoter as a determinant of high-density lipoprotein cholesterol level in subjects with and without cholesteryl ester transfer protein deficiency.
评估载脂蛋白A-I基因启动子中G到A的替换作为有无胆固醇酯转运蛋白缺乏受试者高密度脂蛋白胆固醇水平决定因素的作用。
Hum Genet. 1995 Nov;96(5):521-6. doi: 10.1007/BF00197405.
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A multivariate method for detecting genetic linkage, with application to a pedigree with an adverse lipoprotein phenotype.一种用于检测基因连锁的多变量方法及其在具有不良脂蛋白表型的家系中的应用。
Am J Hum Genet. 1990 Aug;47(2):247-54.
5
Atherogenic diet increases cholesteryl ester transfer protein messenger RNA levels in rabbit liver.致动脉粥样化饮食会增加兔肝脏中胆固醇酯转运蛋白信使核糖核酸的水平。
J Clin Invest. 1990 Feb;85(2):357-63. doi: 10.1172/JCI114446.
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EcoN I polymorphism in the human cholesteryl ester transfer protein (CEPT) gene.人类胆固醇酯转运蛋白(CEPT)基因中的EcoN I多态性。
Nucleic Acids Res. 1990 May 11;18(9):2834. doi: 10.1093/nar/18.9.2834-a.