【摘要】 目的 :探讨中国正常人群中载脂蛋白E(ApoE)基因编码区及其转录调控区 +113G/C多态的分布。方法 :采用聚合酶链反应 (PCR)和限制性片段长度多态 (RFLP)方法 ,检测ApoE基因编码区及其转录调控区 +113G/C多态各等位基因及基因型的频率分布。结果 :正常人群中ApoE基因及转录调控区 +113G/C多态基因型的分布符合Hardy Weinberg平衡。按是否含ApoEε4基因分层后 ,ε4与非ε4型人群等位基因和基因型频率分布差异均无显著意义 (基因型 χ2 =1.819,P =0 .178;等位基因 χ2 =4 .95 2 ,P =0 .0 85 )。按 +113G/C多态各基因型分层后 ,各人群间ApoE基因型差异无统计学意义 (G/G与非G/Gχ2 =1.14 5 ,P =0 .95 ;C/C与非C/Cχ2 =3.997,P =0 .5 5 )。但ε4等位基因与C/C基因型连锁分离的概率为 0 ,ε4纯合基因型与 +113G纯合基因型共分离的概率亦为 0。结论 :中国正常人群中ε4等位基因与 +113C纯合基因型及ε4纯合基因型与 +113G纯合基因型共分离相当罕见 ,这两种基因连锁分离时可能不利于中国人群的生存更多还原

【Abstract】 Objective: Apolipoprotein E (ApoE) has been found to play an important role in lipid metabolism and has been associated with neurodegenerative conditions. The objective of this study is to examine the distribution of ApoE alleles and genotypes in a healthy Chinese population. The +113G/C polymorphism of the promoter region of the ApoE gene was also examined. Methods: Polymerase chain reaction followed by restriction fragment length polymorphism was applied to determine the frequency of ApoE alleles. Results: ApoE ε3 allele had the greatest frequency in this group (0.81), followed by ApoE ε2 (0.10) and ApoE ε4 ( 0.09). The highest genotype frequency was found to be ε3/3 at 68% (n=75), followed by genotype ε3/4 at 14% (n=16), genotype ε2/3 at 12% (n=13), genotype ε2/2 at 3% (n= 3), genotype ε2/4 at 2% (n=2) and genotype ε4/4 at 1% (n=1). The allele frequencies in the +113 site of the enhancer region were 0.56 for the G allele and 0.44 for the C allele. The genotype frequency was highest for G/C(0.54), followed by G/G(0.29) and C/C(0.17). Moreover, the C/C genotype did not link with ε4 allele and G/G genotype did not link with ε4/4 genotype. Conclusion: In the present sample, the ApoE ε4/4 genotype seldom had linkage with G/G genotype and the ApoE allele seldom had linkage with +113C/C genotype. The ApoE ε4 homozygote or allele linking with +113G/G or +113C/C might be disadvantageous for survival of Chinese population due to high risk of atherosclerotic coronary artery disease and Alzheimer′s disease in life.更多还原