32例肝豆状核变性患者的ApoE基因型  

ApoE genotype distribution in 32 Chinese patients with hepatolenticular degeneration

作　　者：王晓平[1] 鲍远程[2] 王新辉[1] 刘际[1] 周江宁[1] 

机构地区：[1]中国科学技术大学生命科学院神经退行性疾病研究室,安徽合肥230026 [2]安徽中医学院,安徽合肥230031

出　　处：《中国神经科学杂志》2003年第3期186-189,共4页

基　　金：安徽省教委自然科学基金 ( 98JL0 92 ) ;中国教育部留学归国人才特别基金神经退行性疾病的发病机制教外司留 679号资助

摘　　要：目的 :初步研究中国人肝豆状核变性的ApoE基因型特征。 方法 :提取 32例肝豆状核变性患者的抗凝全血标本中的DNA ,对其ApoE基因型进行PCR测定 ,并结合临床症状特征进行分析比较。 结果 :32例标本中ApoEε3/ 3基因型 2 3例 (71.9% ) ,ApoEε2 / 3基因型 4例 (12 .5 % ) ,ApoEε3/ 4基因型 5例 (15 .6 % )。具有ApoEε3/3基因型患者起病年龄统计上较非ApoEε3/ 3基因型起病年龄显著延迟 (t =2 .17,P <0 .0 5 ) ,但基因频率分布ApoEε2 (0 .0 6 3) ,ApoEε3(0 .86 0 ) ,ApoEε4 (0 .0 78)与正常国人对照组无显著差异 ,且与国外肝豆状核变性研究结果明显不同。 结论 :纯合子ApoEε3/ 3可能是肝豆状核变性保护因子 ,但ApoEε4等位基因不能肯定为HLD这种神经退行性疾病的危险因子。Objective:To investigate the ApoE genotypes of Chinese patients with hepatolenticular degeneration (HLD). Methods:The ApoE genotypes in 32 patients with HLD were evaluated with PCR technique, as well as analyzed with their clinical representations. Results:The ApoE genotypes of 32 patients were identified as ApoEε3/3 in 23 cases(71.9%), ApoEε2/3 in 4 cases(12.5%), ApoEε3/4 in 5 cases(15.6%), and the gene frequencies of ApoEε2( 0.063 ),ApoEε3(0.860),ApoEε4(0.078)were similar to those of the normal Chinese control, which is markedly different from the Western results. Statistically, the onset age with ApoEε3/3 in HLD patients were delayed more significantly than that of non ApoEε3/3 patients( P< 0.05). Conclusion:Homozygote ApoEε3/3 might genetically be a protective factor in HLD pathogenesis in this group,but ApoEε4 is not suggested to be a risk of HLD that is also related with the neurodegenerative diseases.

关 键 词：肝豆状核变性 APOE 基因型 载脂蛋白E 测定 

分 类 号：R742.4[医药卫生—神经病学与精神病学] R394[医药卫生—临床医学]