高脂血症患者脂蛋白脂酶基因外显子4区域变异的研究  

Variants of Exon 4 and Its Flanking Region of LPL Gene in Patients with Hyperlipidemia

作　　者：赵迎社[1] 冯建生[1] 蒋建伟[1] 吴美玉[1] 杨中汉[2] 周天鸿[3] 

机构地区：[1]暨南大学医学院生化教研窒,广州510632 [2]中山大学中山医学院生化教研室,广州510089 [3]暨南大学生命科学技术学院,广州510632

出　　处：《遗传》2002年第5期519-522,共4页Hereditas（Beijing)

基　　金：广东省自然科学基金资助项目(990467)

摘　　要：为了探讨广东地区高脂血症患者脂蛋白脂酸（lipoprotein lipase,LPL）基因的分子变异,从258例高脂血症患者外周血白细胞中提取基因组DNA,用PCR-SSCP方法分析外显子4及其附近区域,对SSCP带型异常样品进行克隆和序列测定。在2名高脂血症患者LPL基因内含子3的3’端-6bP处发现C→T转换突变,252例正常对照中未发现该突变。IVS-3的C→T突变可能与高脂血症有关。To elucidate abnormalities of LPL gene in hyperlipidemia in the Chinese population in Guangdong, genomic DNA was extracted from leukocyte of 258 patients with primary hyperlipidemia. A segment of LPL gene including exon 4 and its flanking sequences was analyzed by PCR - SSCP. The PCR products with abnormal SSCP pattern were cloned and sequenced. As a C-T transition mutation at-6 bp of intron 3 was found in two Chinese with hyperlipidemia and the mutation was not found in 252 normolipidemic controls,the C-T transition in intron 3 may be related to hyperlipedemia.

关 键 词：高脂血症 脂蛋白脂酶基因 外显子4区域变异 多聚酶链反应 单链构象多态性 

分 类 号：R589.2[医药卫生—内分泌] R394[医药卫生—内科学]