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-hong3 1.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,China Abstract: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     

适体技术:疾病治疗和药物研究的新方向

本文介绍了一门新的核苷酸技术－－适体技术的作用机制,制备过程及其在肿瘤,病毒感染,炎症,一疾病等领域的治疗功效,体内外实验研究和临床治疗前景。