【摘要】 目的　探讨胆固醇酯转移蛋白 (CETP)基因和二乙基对硝基磷脂酶 (PON1)基因位点与胆囊结石发生及血浆脂质水平的连锁关系。方法　采用多聚酶链式反应 (PCR) 限制性内切酶酶切技术 ,对 15个胆囊结石家系同胞对基因组DNA的CETP和PON1基因型与胆囊结石发生及血脂进行连锁分析。结果　各组有与无胆囊结石的CETP和PON1位点基因型差异无显著性 ,各组CETP和PON1位点与胆囊结石发生无连锁关系 (P值均 >0 .0 5 )。CETP位点与血浆总胆汁酸(TBA) (P =0 . 0 0 0 9)、甘油三脂 (TG) (P =0 .0 14 2 )、载脂蛋白 (Apo)C3 (P =0 .0 12 0 )、ApoE(P =0 .0 12 7)、脂蛋白 (α) [Lp(α) ] (P =0 .0 111)连锁 ,其截距分别是 45 .73、2 .3 9、760 0、719.3、69 14 3 ,斜率分别是 -4 5 .73、-2 .3 7、-760 0、-64 6.6。PON1和TBA (P =0 . 0 2 79)与ApoE(P =0 .0 177)连锁 ,其截距分别是 2 7.93、64 7.7,斜率分别是 -2 7.93、-612 .9。结论　CETP与PON1位点与胆囊结石发生无连锁。CETP位点影响血浆TBA、TG、ApoC3 、ApoE和Lp(α)水平 ,PON1仅影响血浆TBA和ApoE水平。两位点均与血浆高密度脂蛋白 胆固醇 (HDL C)ApoA1和ApoA2 水平无关更多还原

【Abstract】 Objective To study the linkage of cholesteryl ester transfer protein (CETP) and paraoxonase (PON1) loci with development of gallstone and plasma lipids or apolipoprotein levels. Methods Genotype and its linkage with the occurrence of gallstone in gallbladder and plasma lipids and apolipoproteins levels were analyzed in family pedigree of gallbladder stone by using polymerase chain reaction (PCR) method and limited DNA endoribonuclease technique. Results There was no significant difference in genotype of CETP or PON1 between patients with gallstone in gallbladder and those without gallbladder gallstone (P>0.05). There was no linkage between CETP or PON1 locus and development of gallstone in gallbladder in each group (P>0.05). CETP locus was linked with plasma levels of total bile acids (TBA) (P=0.000?9), triglyceride (TG) (P=0.014?2), apolipoprotein (Apo) C 3 (P=0.012?0), Apo E(P=0.012?7), Lp(a) (P=0.011?1). PON1 locus was also linked to plasma levels of TBA (P=0.027?9) and Apo E (P=0.017?7). Conclusion CETP and PON1 loci were not linked to the development of gallstone in gallbladder. CETP locus was closely associated with the plasma levels of TBA, TG, Apo C 3, Apo E, Lp(a). PON1 was closely related to that of TBA and ApoE. Both loci of CETP and PON1 had no relevant to the plasma levels of HDL C, Apo A 1 and Apo A 2.更多还原