中国人LDL受体基因变异情况及其与动脉粥样硬化关系的研究

The atherosclerotic cardio-cerebral vascular disease has become the majore cause of death in our country, while the hypercholestrolemia caused by LDL receptor mutation has been considered as the most important risk factor of atherosclerosis. The present study have investigated the mutation type of LDL receptor in China. More than 20 families have been researched. Six new types of mutation have been found and their effects on LDL receptor function elucidated. It is with great significance for protection of gene resource of LDL receptor and taking possession of a seat in the future competition for gene resource. The discovery of new mutation and the study on its relation to clinic might provide evidences for furthur investigation of the relationship between the structure of LDL receptor gene and the function of LDL receptor protein.

低密度脂蛋白(LDL)受体基因突变所致家族性高胆固醇血症(FH),是动脉粥样硬化性心脑血管疾病发生的重要因素之一。本项目旨在原有研究基础上进一步调查我国LDL受体基因突淝榭觯⑾中峦槐淅嘈停髌涠訪DL受体功能的影响及其与动脉粥样硬化之间的相互关系,并筛选出部分地区中国人LDL受体基因突变的常见类型,为今后开展我国FH发病学、基因诊虾突蛑瘟频难芯看蛳禄