【摘 要】
：
背景 血脂水平增高是动脉粥样硬化的重要危险因素,许多研究表明遗传因素对血脂水平有重要的作用,基因组内有许多基因的变异与血脂水平具有相关性.自从有研究者在非裔美洲人和白人中将影响胆固醇和甘油三酯水平的数量性状基因座定位在21号染色体长臂54cM的一段区域内,位于21q22.3的基因ABCG1便成为可能与血脂水平相关的候选基因.ABCG1基因编码一个6次跨膜的转运蛋白,ABCG1通过水解ATP提供能量
【机 构】
：
250012 济南,实验畸形学教育部重点实验室,山东大学医学院医学遗传学研究所, 250012 济
【出 处】
：
第八次全国医学遗传学学术会议(中华医学会2009年医学遗传学年会)
论文部分内容阅读
背景 血脂水平增高是动脉粥样硬化的重要危险因素,许多研究表明遗传因素对血脂水平有重要的作用,基因组内有许多基因的变异与血脂水平具有相关性.自从有研究者在非裔美洲人和白人中将影响胆固醇和甘油三酯水平的数量性状基因座定位在21号染色体长臂54cM的一段区域内,位于21q22.3的基因ABCG1便成为可能与血脂水平相关的候选基因.ABCG1基因编码一个6次跨膜的转运蛋白,ABCG1通过水解ATP提供能量,使细胞内胆固醇和磷脂向HDL转运,可避免外周细胞胆固醇严重沉积,进而阻止泡沫细胞的形成、动脉粥样硬化的发生和发展.在动物模型研究中发现ABCG1基因的缺陷可导致高脂饮食引起的脂质聚集和动脉粥样硬化病变严重程度的升高.也有研究表明ABCG1作为阿尔兹海默症和一些精神疾病的候选基因,其基因多态性与这些疾病的发生具有一定的相关性,但其多态性与心血管疾病之间的相关研究还少见报道.
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