中国人内源性高甘油三酯血症与脂蛋白脂酶基因PvuⅡ多态性关联的研究  

Studies on association between lipoprotein lipase gene polymorphisms of PvuⅡ site and hypertriglyceridemics in Chinese

作　　者：樊芸[1] 张蓉[1] 刘秉文[1] 张祖辉[1] 

机构地区：[1]华西医科大学分子生物学和生物化学研究室,610041

出　　处：《中华医学遗传学杂志》2001年第4期296-298,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金部分资助 (39770 32 2 )&&

摘　　要：目的　探讨中国人内源性高甘油三酯血症 (hypertriglyceridemics,HTG)与脂蛋白脂酶基因Pvu 多态性是否关联。方法　采用聚合酶链反应和限制性片段长度多态性方法 ,对成都地区 135例内源性高甘油三酯血症患者和 193名血脂正常者脂蛋白脂酶基因内含子 6 Pvu 多态性及其对血脂及载脂蛋白 (apo)水平的影响进行了研究。结果　HTG患者和正常人均以 P+等位基因为主 ,HTG组以 P+P+基因型为主 ,而正常对照组以 P+P-基因型为主。HTG组的 P+P+基因型分布频率及 P+等位基因分布频率则显著高于正常对照组 (0 .46 0 vs0 .337,P<0 .0 5 ;0 .6 89vs0 .5 6 5 ,P<0 .0 1)。P+P+基因型者的血清甘油三酯 (TG)、apo C 、apo C 、apo E水平及 TG/ HDL - C比值较 P- P-基因型者显著增高 (P<0 .0 5 )。结论　脂蛋白脂酶基因Objective To explore whether PvuⅡ restriction fragment length polymorphisms (RFLP) in the lipoprotein lipase(LPL) gene are associated with hypertriglyceridemics (HTG).Methods PvuⅡ restriction fragment length polymorphisms in the lipoprotein lipase gene on a sample of 135 HTG patients and 193 age matched healthy individuals in Chengdu area were detected with the method of PCR RFLP.Results The P+P+ genotype frequency and P+ allelic frequency of LPL gene for HTG cases are higher than those for control groups (0.460 vs 0.337, P <0.05;0.689 vs 0.565, P <0.01).The serum levels of TG、apoCⅡ、apoCⅢ、apoE and TG/HDL C in P+P+ genotype are higher than those in P-P- genotype( P <0.05). Conclusion The results suggest that P+P+ genotype in the lipoprotein lipase gene is associated with susceptibility to hypertriglyceridemics in Chinese population.

关 键 词：脂蛋白脂酶基因多态性 PvuⅡ酶切位点 脂质 载脂蛋白 内源性高甘油三酯血症 

分 类 号：R589.2[医药卫生—内分泌]