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中国人肝脏基因组文库中载脂蛋白AI基因的克隆及载脂蛋白AI/CIII基因位点DNA多态性观察

Cloning of apoprotein AI gene and observation on DNA polymorphism of apoprotein AI/CIII gene-loci in genomic library from a liver of Chinese.

作者信息

Xu H J, Zhou H Y, Hu S X, Pan X R

出版信息

Chin Med J (Engl). 1989 Mar;102(3):169-73.

PMID:2569382
Abstract

For the research on the structure and function of the HDL apoproteins, we have successfully constructed a complete genomic library, in self-prepared EMBL3 lambda vector and the packaging extracts of lysogenic strains BHB2688, BHB2690, from a Chinese fetal liver, which will be widely used in the research on the structure and function of apoproteins. In this study, a DNA sequence polymorphism, revealed by digestion of human DNA with the restriction endonuclease Sst1 and hybridization with an apoprotein AI cDNA probe, has been shown to be located at apoAI/CIII gene-loci. Three gene related fragments (5.7 Kb, 4.0 Kb and 3.0 Kb) were detected. The 5.7 Kb fragment is common and the polymorphism is demonstrated by the presence of either a 4.0 Kb fragment (S1 allele) or the 3.0 Kb fragment (S2 allele). Individuals were genotyped S1S1 or S1S2. Our result showed that the frequency of genotype S1S2 was higher in hypertriglyceridemic subjects than that in normolipidemic subjects.

摘要

为了研究高密度脂蛋白(HDL)载脂蛋白的结构与功能,我们利用自行制备的EMBL3 λ载体和溶原性菌株BHB2688、BHB2690的包装提取物,成功构建了一个来自中国胎儿肝脏的完整基因组文库,该文库将广泛应用于载脂蛋白结构与功能的研究。在本研究中,经限制性内切酶Sst1消化人DNA并用载脂蛋白AI cDNA探针杂交所揭示的一种DNA序列多态性,已被证明位于载脂蛋白AI/CIII基因位点。检测到三个与基因相关的片段(5.7 Kb、4.0 Kb和3.0 Kb)。5.7 Kb片段是常见的,多态性表现为存在4.0 Kb片段(S1等位基因)或3.0 Kb片段(S2等位基因)。个体的基因型为S1S1或S1S2。我们的结果显示,高甘油三酯血症患者中S1S2基因型的频率高于正常血脂患者。

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