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人类载脂蛋白CII基因附近的DNA多态性。

A DNA polymorphism adjacent to the human apolipoprotein CII gene.

作者信息

Humphries S E, Jowett N I, Williams L, Rees A, Vella M, Kessling A, Myklebost O, Lydon A, Seed M, Galton D J

出版信息

Mol Biol Med. 1983 Dec;1(5):463-71.

PMID:6094958
Abstract

We have used a cDNA clone for human apolipoprotein CII (apo CII) to detect a common DNA polymorphism with the enzyme TaqI. This polymorphism is probably caused by a single base change approximately 2000 base-pairs from the 3' end of the structural gene. In the normal population (n = 90) the frequency of the less common allele is approximately 0.44. No significant differences were observed in the allele frequency in individuals with type IIa, IIb, III, IV and V lipoprotein patterns. There does not seem to be any population association between the TaqI polymorphism and factors that predispose an individual to hyperlipidaemia.

摘要

我们使用人载脂蛋白CII(apo CII)的cDNA克隆,通过TaqI酶检测到一种常见的DNA多态性。这种多态性可能是由结构基因3'端约2000个碱基对处的单个碱基变化引起的。在正常人群(n = 90)中,较罕见等位基因的频率约为0.44。在具有IIa型、IIb型、III型、IV型和V型脂蛋白模式的个体中,等位基因频率未观察到显著差异。TaqI多态性与使个体易患高脂血症的因素之间似乎不存在任何群体关联。

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