冠状动脉粥样硬化性心脏病患者脂蛋白酯酶基因的单核苷酸多态性的初步研究  

A preliminary study of single nucleotide polymorphisms of lipoprotein lipase gene in coronary atherosclerotic heart disease *

作　　者：苏智广[1] 张思仲[1] 侯一平[1] 张立[1] 廖林川[1] 夏庆杰[1] 肖翠英[1] 孟海英[1] 颜有仪[1] 

机构地区：[1]华西医科大学附属第一医院,成都610041

出　　处：《中华医学遗传学杂志》2000年第3期157-160,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金! (3999342 0 )

摘　　要：目的　探讨脂蛋白酯酶基因 (lipoprotein lipase,L PL)单核苷酸多态性 (single nucleotidepolymorphisms,SNP)与冠状动脉粥样硬化性心脏病 (简称冠心病 )的关系。方法　利用聚合酶链反应扩增110名健康人和 10 2例冠心病患者 L PL 基因第 6外显子和第 6内含子的片段 ,采用温度调控高效液相色谱技术对扩增的片段进行了筛查 ,对筛查到的杂合片段进行序列测定 ,并与正常序列进行对照分析。结果　在L PL 基因第 6内含子中发现了 3个尚未报道的 SNP(42 12 t/ c、45 0 9t/ c、45 76 a/ c)。它们的频率在被检测的冠心病患者和健康人群中存在差异 ,其中 42 12 t/ c、45 76 a/ c两组间差异显著 (P<0 .0 5 )。结论　补充了 L PL基因 SNPs的数据库信息。L PL基因Objective This study inquired into the relationship between single nucleotide polymorphisms(SNPs) of lipoprotein lipase gene (LPL) and coronary atherosclerotic heart disease(CHD). Methods Exon 6 and fragment of intron 6 in LPL gene from 102 cases of CHD and 110 normal subjects were analysed by polymerase chain reaction amplification, temperature modulated high performance liquid chromatography (TmHPLC) and DNA sequencing. Results Three new SNPs (4212 t/c, 4509 t/c, 4576 a/c) were detected in the intron 6 of LPL gene. There was significant difference in frequencies of 4212t/c,and 4576 a/c between health group and CHD group( P <0 05). Conclusion This study has accumulated additional data on SNPs in LPL gene and provided new data for exploring the mechanism of CHD.

关 键 词：脂蛋白酯酶基因 单核苷酸多态性 冠心病 DNA序列 

分 类 号：R541.4[医药卫生—心血管疾病]