【摘要】 目的　探讨载脂蛋白 A (apolipoprotein A ,apo A )基因变异与中国人内源性高甘油三酯血症是否有关联 ,为研究本病的分子遗传基础提供依据。方法　应用多聚酶链反应和 DNA片段序列分析法 ,对 48名正常人及 47例内源性高甘油三酯血症 (endogenous hypertriglyceridemia,HTG)患者 apo A 基因 3′端可变串联重复序列 (variable number tandem repeat,VNTR)进行分析。结果　中国人 apo A 基因 3′端 VNTR多态位点 CTGT三连重复 [(CTGT) 3]等位基因的频率为 0 .2 5 3,与德国白种人的 0 .6 0 7和意大利白种人的 0 .5 2 2差异存在显著性 (P<0 .0 1,P<0 .0 1) ,而与日本人的 0 .2 6 2相近 (P>0 .0 5 )。HTG组和对照组之间 (CTGT) 3等位基因的频率差异无显著性 (0 .2 2 3vs 0 .2 81,P>0 .0 5 ) ,对照组 VNTR3/ 3基因型携带者其血清 L DL C水平显著高于 3/ 4型携带者 (3.6 98± 0 .6 7mmol/ L vs 2 .974± 0 .5 4mmol/ L ,P<0 .0 5 )。结论　 apo A 基因 VNTR多态性与血清低密度脂蛋白胆固醇 (low- densitylipoprotein cholesterol,L DL C)有一定关联 ,但未见对血清 TG、HDL C及载脂蛋白的水平有影响更多还原

【Abstract】 Objective To search the variation of apoAⅣ ge ne and it s relation to endogenous hypertriglyceridemia (HTG) in Chinese population. Methods Forty-seven endogenous hypertri- glyceridemics and 48 h ealthy subj ects from a population of Chinese Han nationality in Chengdu area were studied using sequencing of apoAⅣ gene amplified by polymera se chain reaction (PCR). Results The frequency of (CTGT) 3 al lele in Chinese control group was significantly different from that report ed in German Caucasians (0.253 vs 0.607, P< 0.01) and in Italian Caucasians (0.253 vs 0.522, P< 0.01), but not different from that reported in Japanese (0 253 vs 0.262, P> 0.05). The frequency of (CTGT) 3 allel e showed no significant difference between normal control and HTG groups(0.223 v s 0 281, P>0 05) . In the healthy control group, the subjects with genotyp e 3/3 of VNTR site had a higher serum mean concentration of LDLC as compared to t hose with genotype 3/4 (3.698±0.67 mmol/L vs 2 974±0 54 mmol/L, P< 0.05) . Conclusion The results suggest that VNTR polymorphi sm in apo AⅣ gene is associated with healthy control subjects to some extent in Chinese population.更多还原