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为了研究胰岛素依赖型糖尿病(IDDM)患者载脂蛋白(Apo)E表型与基因型的差异,选择了中国汉族IDDM患者54例。采用等电聚焦法(IEF)和PCR/ASO探针杂交及扩增不应突变系统(ARMS)分别检测其ApoE表型和基因型。结果显示ApoE表型与PCR/ASO法分析的ApoE基因型差异14例(25.9%),与ARMS法分析的ApoE基因型差异12例(22.2%)(P<0.01)。相比之下,ApoE2异型频率相对增高(16.67%)。从而推断IDDM患者ApoE转录后的化学修饰可导致ApoE表型与基因型不一致。
To investigate the difference in phenotype and genotype of apolipoprotein (E) in patients with insulin-dependent diabetes mellitus (IDDM), 54 Chinese Han patients with IDDM were selected. The ApoE phenotype and genotype were detected by isoelectric focusing (IEF) and PCR / ASO probe hybridization and ARMS amplification. The results showed that there were 14 cases (25.9%) of ApoE genotypes difference between ApoE phenotype and PCR / ASO method and 12 cases (22.2%) of ApoE genotypes analyzed by ARMS method (P <0.01). In contrast, ApoE2 isotype frequency was relatively high (16.67%). It is concluded that post-transcriptional chemical modifications of ApoE in IDDM patients may result in inconsistent ApoE phenotypes with genotypes.