遗传 ›› 2002, Vol. 24 ›› Issue (5): 519-522.

• 论文 • 上一篇    下一篇

高脂血症患者脂蛋白脂酶基因外显子4区域变异的研究

赵迎社1;杨中汉2;冯建生1;蒋建伟1;吴美玉1;周天鸿3   

  1. 1.暨南大学医学院生化教研室,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
  • 收稿日期:1900-01-01 出版日期:2002-10-10 发布日期:2002-10-10

  • Received:1900-01-01 Online:2002-10-10 Published:2002-10-10

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。

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

关键词: 脂蛋白脂酶, 高脂血症, 单链构象多态性, 多聚酶链反应