用于诊断家族性高胆固醇血症的寡核苷酸连接分析（OLA）
Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia.
作者信息
Baron H, Fung S, Aydin A, Bähring S, Luft F C, Schuster H
机构信息
Franz Volhard Clinic at the Max Delbrück Center for Molecular Medicine, Virchow Klinikum, Humboldt University of Berlin, Germany.
出版信息
Nat Biotechnol. 1996 Oct;14(10):1279-82. doi: 10.1038/nbt1096-1279.
More than half of all deaths in Western society are related to arteriosclerotic cardiovascular diseases. Inherited disturbances in the low-density-lipoprotein (LDL) receptor and similar lipid-related defects account for the majority of these deaths. Testing procedures thus far rely on total cholesterol, LDL cholesterol, high-density-lipoprotein cholesterol, and triglyceride determinations. These tests are not able to provide any genetic information. We have developed an oligonucleotide ligation assay (OLA) that enables us to screen for high-risk individuals by testing for 19 common mutations in the LDL receptor and the apolipoprotein B genes using an automated genotyping-based two-step protocol. The novel OLA uses oligomeric pentaethyleneoxide mobility modifiers. The automated test will be useful in screening large populations for genetic data to distinguish relative from absolute risk, as well as for cost-effective familial analysis.
西方社会超过半数的死亡与动脉粥样硬化性心血管疾病相关。低密度脂蛋白（LDL）受体的遗传性紊乱以及类似的脂质相关缺陷是这些死亡的主要原因。迄今为止，检测程序依赖于总胆固醇、LDL胆固醇、高密度脂蛋白胆固醇和甘油三酯的测定。这些检测无法提供任何遗传信息。我们开发了一种寡核苷酸连接分析（OLA）方法，通过使用基于自动基因分型的两步方案检测LDL受体和载脂蛋白B基因中的19种常见突变，使我们能够筛选出高危个体。这种新型OLA使用寡聚五氧化二乙烯迁移率调节剂。这种自动化检测将有助于在大量人群中筛选遗传数据，以区分相对风险和绝对风险，以及进行具有成本效益的家族分析。
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