胰岛素依赖型糖尿病患者ApoE表型与基因型的差异

Disparity between ApoE phenotypes and genotypes in IDDM patients

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 study the disparity between ApoE phenotypes and gen otypes in IDDM patients， 54 Chinese IDDM patients were selected. Phenotypes we re determined by isoelectric focusing (IEF) and genotypes by the technique of PC R/ASO probes and the amplification refractory mutation system (ARMS). The resul ts are as follows: Discrepancies between phenotypes and genotypes as assigned by PCR/ASO probes were observed in 14 cases (25.9%， P ＜0.01), and by ARMS in twelve (22.2%， P ＜0.01). By contrast, ApoE2 isoform frequencies were rel atively high(16.67%). Therefore, It's concluded that in patients with IDDM pos t-translational modification of ApoE may lead to disparities, with phenotypes b eing unrepresentative of genotypes.