【摘要】 目的:探讨载脂蛋白A1、B基因多态性对非创伤性股骨头坏死(avascular necrosis of the femoral head,ANFH)发生的影响。方法:应用聚合酶链反应对中国北方汉族143例ANFH患者和92例正常人分别扩增含ApoA1基因启动子-75bp和第一内含子+83bp及ApoB基因EcoRI、XbaI和3’!VNTR的DNA片段,限制性内切酶酶切扩增产物,琼脂糖凝胶电泳分离基因多态性。结果:ApoA1基因启动子-75bp处,ANFH患者中A/A基因型频率明显高于正常组(P<0.01),而G/A基因型频率明显低于正常组(P<0.01)。ApoA1内含子+83bp位点,ApoB基因EcoRI、XbaI位点和3’!VNTR区域ANFH患者组和正常组基因型及等位基因频率分布无统计学差异。结论:ApoA1基因启动子区域-75bp位点A/A型可能是非创伤性股骨头坏死易感基因之一,但未能发现ApoA1第一内含子+83bp位点及ApoB基因EcoRI、XbaI和3’!VNTR位点多态性与非创伤性股骨头坏死发生有明显的关系。更多还原

【Abstract】 Objective:To investigate the effects of Apo A1 and B gene polymorphism on avascular necrosis of the femoral head(ANFH)in north Chinese Han population. Methods:Polymerase chain reaction-restriction fragment length polymorphisms(PCR-RFLP)technique was used in samples of 143 cases with documented ANFH and 92 healthy control matched by age and sex individ uals selected from north Chinese Han nationality. The studied loci include promoter region(-75bp)and the intron 1(+83 bp)of Apo A1 gene,Eco RI,Xba I of Apo B gene;polymerase chain reaction was used to study 3’-VNTR of Apo B gene. Results:At -75 bp in promoter,the frequency of A/A genotype in ANFH group was significantly higher than that in control group(P<0.01),while the frequency of G/A genotype in ANFH group was significantly lower than that in control group(P< 0.01). No difference was found in the frequency of genotype at +83bp in intron 1 of Apo A1 gene,Eco RI,Xba I and 3’-VNTR loci of Apo B gene. Conclusion:Apolipoprotein A1 gene A/A substitution at position -75 in promotor is associated with ANFH,the mutation may be one of the sensitive genes of ANFH,first reported inside and abroad. But no evident relationship was found between gene polymorphism of +75 bp loci of Apo A1 gene,Eco RI loci of Apo B gene,Xba I loci of Apo B gene or 3’-VNTR of Apo B gene and ANFH.更多还原