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一种影响人类和小鼠甘油三的阿波利波蛋白,通过比较测序揭示了它的作用
L A Pennacchio1, M Olivier, J A Hubacek
1Genome Sciences Department, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.
Science (New York, N.Y.)
|October 6, 2001
概括
一个新发现的基因,阿波利波蛋白AV (APOAV),显著影响血甘油三水平. 较低的APOAV水平会增加甘油三,这是冠状动脉疾病的危险因素.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 心血管科学 心血管科学
背景情况:
- 阿波利波蛋白AV (APOAV) 是一种新发现的基因.
- APOAV位于染色体11q23.3上的APOAI/CIII/AIV基因群附近.
- 血甘油三水平是冠状动脉疾病的重要危险因素.
研究的目的:
- 调查新型阿波利波蛋白AV (APOAV) 基因在调节血甘油三水平中的作用.
- 确定APOAV与冠状动脉疾病风险之间的关联.
主要方法:
- 人类和小鼠的基因组DNA序列比较分析.
- 产生表达人类APOAV的转基因小鼠.
- 淘汰赛小鼠的一代缺乏小鼠Apoav.
- 在人类APOAV位点中分析单核酸多态 (SNPs).
- 在小鼠模型和人体研究中测量血甘油三度.
主要成果:
- 表达人类APOAV的转基因小鼠表现出血甘油三水平的显著降低.
- 与对照组相比,Apoav淘汰赛小鼠的血甘油三水平显著增加.
- 在人类群体中,APOAV基因位点SNP与血甘油三水平之间发现了显著的关联.
结论:
- APOAV在调节血甘油三水平方面发挥着至关重要的作用.
- APOAV基因的变异与改变的甘油三代谢有关.
- APOAV是血甘油三酸水平的重要遗传决定因素,也是冠状动脉疾病发病的潜在因素.
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