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近年来研究发现ApoE基因多态性与脑瘫、阿尔茨海默病、认知障碍、脑血管病等疾病的发病有着密切的关系。ApoE是血浆脂蛋白的重要组成成分,在脂质代谢中发挥着重要的作用。在中枢神经系统发育过程和损伤之后,作为脂质载体的ApoE,参与脂质代谢,调控胆固醇的动员和再分配,参与神经细胞膜修复、再生长与维持。ApoE基因位于第19号染色体长臂(19q 13.2)上,有4个外显子及3个内含子,其结构基因位点具有明显的遗传多态性。它的缺失或者变异引起体内的代谢异常或者组织器官的功能障碍,从而导致一系列的疾病和并发症。
In recent years, studies have found that ApoE gene polymorphisms and cerebral palsy, Alzheimer’s disease, cognitive disorders, cerebrovascular disease and other diseases are closely related. ApoE is an important component of plasma lipoproteins and plays an important role in lipid metabolism. After central nervous system development and injury, ApoE, as a lipid carrier, is involved in lipid metabolism, regulates the mobilization and redistribution of cholesterol, and participates in repair, regrowth and maintenance of nerve cell membrane. The ApoE gene is located on the long arm of chromosome 19 (19q 13.2), has 4 exons and 3 introns, and its structural gene loci have obvious genetic polymorphisms. Its absence or mutation causes metabolic abnormalities in the body or dysfunction of tissues and organs, leading to a series of diseases and complications.