高脂血症患者脂蛋白脂酶基因外显子4区域变异的研究

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。Variants of Exon 4 and Its Flanking Region of LPL Genein Patients with Hyperlipidemia ZHAO Ying-she1,YANG Zhong-han2,FENG Jian-sheng1,JIANG Jian-wei1,WU Mei-yu1,ZHOU Tian-hong31.Department of Biochemistry,Medical College,Jinan University，Guangzhou 510632,China;2.Department of Biochemistry,Sun Yat-sen University of Medical Sciences,Guangzhou 510089,China;3.College of Life Sciences and Technology,Jinan University,Guangzhou 510632,ChinaAbstract: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.Key words：lipoprotein lipase；hyperlipidemia；polymerase chain reaction；single strand conformation polymorphism

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

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.