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目的通过检测中国汉族人视网膜色素变性患者的载脂蛋白Ｅ表型，探讨其基因变异与视网膜色素变性发病的关系。方法采用等电聚焦及免疫印迹方法检测正常人和视网膜色素变性患者的ａｏｐＥ表型。结果视网膜色素变性患者中ε４基因频率明显上升（χ２＝１２．９８３，Ｐ＜０．０１），ε２，ε３基因频率与正常对照组无差异。ａｏｐＥ ε４等位基因与视网膜色素变性的发病有关联（ＲＲ＝２５．０７１，Ｐ＜０．０１）。结论ａｏｐＥ ε４基因可能是视网膜色素变性发病的又一遗传因素。
Objective To detect the phenotype of apolipoprotein E in Chinese Han patients with retinitis pigmentosa and explore the relationship between the gene mutation and the incidence of retinitis pigmentosa. Methods The aopE phenotypes of normal subjects and patients with retinitis pigmentosa were detected by isoelectric focusing and immunoblotting. Results The frequency of ε4 gene was significantly increased in patients with retinitis pigmentosa (χ2 = 12.983, P <0.01). The frequencies of ε2 and ε3 genes were not different from those in normal controls. The aopE ε4 allele was associated with the development of retinitis pigmentosa (RR = 25.071, P <0.01). Conclusion aopE ε4 gene may be another genetic factor in the pathogenesis of retinitis pigmentosa.