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Inherited quantitative DNA variation in the LPA ("apolipoprotein (a)") gene.

作者信息

Kondo I, Berg K

机构信息

Institute of Medical Genetics, University of Oslo, Norway.

出版信息

Clin Genet. 1990 Feb;37(2):132-40. doi: 10.1111/j.1399-0004.1990.tb03490.x.

DOI:10.1111/j.1399-0004.1990.tb03490.x
PMID:1968792
Abstract

The Lp(a) antigen resides in a polypeptide chain that is attached to apolipoprotein B (apoB) by a disulfide bridge. Recently, cDNA for this polypeptide chain (frequently referred to as the Lp(a) polypeptide chain, Lp(a) apolipoprotein or apolipoprotein (a] was cloned and extensive homology to plasminogen was uncovered. This homology creates significant difficulties in studying DNA variation in the gene (the LPA gene) for this polypeptide and the plasminogen gene. We have studied a variant 2 kilobase (kb) DNA fragment detectable after digestion with the restriction enzyme MspI, which appears to originate from the LPA gene since it is detected by LPA probes but not with plasminogen probes. It is related to the "kringle IV" region of the LPA gene since it is detected with an LPA probe that only contains "kringle IV" repeats. A proportion of people appears to lack (or have an undetectable level of) the 2 kb fragment and there are significant quantitative differences between samples from people who have the fragment. Presence and amount of this fragment appear to segregate in families as a Mendelian trait. This quantitative DNA variation is likely to reflect differences between individuals in number of "kringle IV" repeats at the LPA locus.

摘要

相似文献

1
Inherited quantitative DNA variation in the LPA ("apolipoprotein (a)") gene.
Clin Genet. 1990 Feb;37(2):132-40. doi: 10.1111/j.1399-0004.1990.tb03490.x.
2
Restriction site polymorphism at the LPA (Lp(a) apolipoprotein; apolipoprotein (a)) locus.LPA(脂蛋白(a);载脂蛋白(a))基因座的限制性酶切位点多态性。
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Risk factor variability and coronary heart disease.风险因素变异性与冠心病
Acta Genet Med Gemellol (Roma). 1990;39(1):15-24. doi: 10.1017/s0001566000005559.
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Plasma Ip(a) concentration is inversely correlated with the ratio of Kringle IV/Kringle V encoding domains in the apo(a) gene.血浆中载脂蛋白(a) [Ip(a)] 浓度与载脂蛋白(a) [apo(a)] 基因中kringle IV/kringle V编码结构域的比例呈负相关。
J Clin Invest. 1989 Dec;84(6):2021-7. doi: 10.1172/JCI114395.
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The apolipoprotein (a) gene: a transcribed hypervariable locus controlling plasma lipoprotein (a) concentration.载脂蛋白(a)基因:一个控制血浆脂蛋白(a)浓度的转录高变位点。
Hum Genet. 1992 Nov;90(3):220-30. doi: 10.1007/BF00220066.
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LPA and PLG sequence variation and kringle IV-2 copy number in two populations.两个群体中LPA和PLG序列变异及kringle IV-2拷贝数
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The apolipoprotein(a) kringle IV repeats which differ from the major repeat kringle are present in variably-sized isoforms.与主要重复kringle不同的载脂蛋白(a) kringle IV重复序列存在于大小可变的异构体中。
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The number of kringle IV repeats 3-10 is invariable in the human apo(a) gene.人载脂蛋白(a)基因中kringle IV重复序列3至10的数量是不变的。
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Genetic linkage between lipoprotein(a) phenotype and a DNA polymorphism in the plasminogen gene.脂蛋白(a)表型与纤溶酶原基因中DNA多态性之间的遗传连锁。
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Sequence conservation in kringle IV-type 2 repeats of the LPA gene.LPA基因kringle IV型2重复序列中的序列保守性。
Atherosclerosis. 2000 Feb;148(2):353-64. doi: 10.1016/s0021-9150(99)00285-3.

引用本文的文献

1
Genetic variation in lipoprotein (a) levels in families enriched for coronary artery disease is determined almost entirely by the apolipoprotein (a) gene locus.在富含冠心病的家族中,脂蛋白(a)水平的遗传变异几乎完全由载脂蛋白(a)基因位点决定。
Am J Hum Genet. 1995 Jan;56(1):287-93.