【摘要】 目的　探讨中国人内源性高甘油三酯血症 (HTG)患者血脂及载脂蛋白的改变是否与 apo C 基因 Sst 酶切位点多态性有关。方法　应用聚合酶链反应 (PCR)对 176例 HTG患者及 199例正常对照 apo C 基因 Sst 酶切位点的限制性片段长度多态性 (RFL P)进行研究。血脂用酶法 ,血清 apo A 、A 、B10 0、C 、C 及 E用 RID试剂盒测定。结果　 HTG患者和正常对照组 apo C 基因均以 S1等位基因为主 ,S2等位基因少见 ,其频率显著高于白种人 (0 .2 89vs0 .0 6～ 0 .16 ,P<0 .0 5 )。正常对照组和 HTG组 S2等位基因频率分别为 0 .2 89和 0 .2 87,两者无显著差异 (P>0 .0 5 )。apo C 基因 S2 S2基因型者血脂、载脂蛋白水平与 S1S1者无显著差异。结论　未发现apo C 基因 Sst 酶切位点的 RFL P与中国人 HTG有关联。更多还原

【Abstract】 Objective To investigate the apoCⅢ gene Sst Ⅰ polymorphism and its relationship with serum lipids and apolipoproteins (apo) levels in patients with endogenous hypertriglyceridemia in Chinese population. Methods The genotype and allele frequency of apoCⅢ gene Sst Ⅰ polymorphism was assayed by polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP). Serum lipids were measured by enzymatic kits and apolipoproteins AⅠ, AⅡ, B100, CⅡ, CⅢ and E were measured by RID kits developed by Apolipoprotein Research Unit of WCUMS in 176 HTG patients whose fasting serum TG levels were ≥2.26 mmol/L and in 199 healthy subjects whose fasting serum TG levels were <1.82 mmol/L and TC levels <6.2 mmol/L from a population of Chinese Han nationality in Chengdu area. Results In both HTG group and control group, S1 allele was the major allele and homozygous S1S1 genotype was the most frequent one. The frequency of S2 allele was significantly higher than that reported in Caucasians (0.289 vs 0.06~0.16, P <0.05). No differences were found in apoCⅢ gene Sst Ⅰ polymophism in the HTG group when compared with the control group (0.287 vs 0 289, P >0.05). The genotype of S2S2 was not associated with higher TG and apolipoproteins levels when compared with the genotypes of S1S1 and S1S2 ( P >0.05). Conclusion These results suggest that the Sst Ⅰ polymorphism of the apoCⅢ gene was not associated with endogenoushypertriglyceridemica in Chinese population.更多还原