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本文以载脂蛋白AI(apoAI)cDNA片段(1.0kb)为探针,对50名正常血脂的汉族个体的apoAI-CⅢ基因区域DNA多态频率和特征进行了研究。发现了2个多态片段:S_2和M_2,其频率分别为0.153,0.167。并对其中44名个体进行了单倍型分析,未发现S_1S_2M_1M_1,S_2S_2M_1M_2和S_2S_2M_1M_1基因型个体。因此,可能仅存在3种单倍型:S_1-M_1,S_2-M_2及S_1-M_2,其频率分别为0.81,0.17,0.02。本研究结果还提示:由apoCⅢSst-Ⅰ和apoAI Msp-Ⅰ多态所确定的等位基因处于连锁不平衡状态。
In this study, the apoAI-CⅢ DNA polymorphism in 50 individuals with normal blood lipids was investigated by using apoAI cDNA fragment (1.0kb) as a probe. Two polymorphic fragments were found: S_2 and M_2, whose frequencies were 0.153 and 0.167, respectively. Forty-four individuals were analyzed by haplotype and no S_1S_2M_1M_1, S_2S_2M_1M_2 and S_2S_2M_1M_1 genotypes were found. Therefore, there may be only three haplotypes: S_1-M_1, S_2-M_2 and S_1-M_2, with frequencies of 0.81,0.17,0.02 respectively. The results of this study also suggest that the alleles identified by apoCⅢSst-Ⅰ and apoAI Msp-Ⅰ polymorphisms are in linkage disequilibrium.