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

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.