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Compositions for treatment of coronary artery diseases using gene therapy.

机译:使用基因疗法治疗冠状动脉疾病的组合物。

摘要

A single point mutation in the human lipoprotein lipase gene which results in an A→G nucleotide change at codon 291 (nucleotide 1127) of the lipoprotein lipase gene, and a substitution of serine for the normal asparagine in the lipoprotein lipase gene product is seen with increased frequency in patients with coronary artery disease, and is associated with an increased susceptibility to coronary artery disease, including in particular premature atherosclerosis. This is expressed as a diminished catalytic activity of lipoprotein lipase, lower HDL- cholesterol levels and higher triglyceride levels. Thus, susceptibility of a human individual to premature atherosclerosis and other forms of coronary artery disease can be evaluated byPPevaluating the sample of DNA for the presence of nucleotides encoding a serine residue as amino acid 291 of the lipoprotein lipase gene product. The presence of a serine residue is indicative of increased susceptibility in the patient. This method may be performed using a kit which contains a pair of primers selected to amplify a region of a human lipoprotein lipase gene spanning amino acid 291 of human lipoprotein lipase.
机译:人脂蛋白脂肪酶基因中的单点突变导致脂蛋白脂肪酶基因的第291位密码子(核苷酸1127)处的A&rarG核苷酸发生变化,并在脂蛋白脂肪酶基因产物中看到丝氨酸被正常天冬酰胺取代冠状动脉疾病患者的频率增加,并且与冠状动脉疾病特别是过早的动脉粥样硬化的易感性增加有关。这表示为脂蛋白脂肪酶的催化活性降低,HDL-胆固醇水平降低和甘油三酸酯水平升高。因此,可以通过评估DNA样品中是否存在编码丝氨酸残基作为脂蛋白脂肪酶基因的氨基酸291的核苷酸来评估人对早发性动脉粥样硬化和其他形式的冠状动脉疾病的敏感性。产品。丝氨酸残基的存在表明患者易感性增加。该方法可以使用试剂盒进行,该试剂盒包含一对引物,所述引物被选择来扩增跨越人脂蛋白脂肪酶的氨基酸291的人脂蛋白脂肪酶基因的区域。

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