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本文利用1kb的apoA-I cDNA探针,检测了56名正常个体的apoA-I基因区域的限制性片段长度多态,在中国汉族人群中首次报道了S_2突变位点的存在,其基因频率为0.143,高于高加索人的此基因频率(0.06)。S_2基因的检出和基因频率的获得为进一步揭示apoA-I基因区域在脂类代谢中的作用提供了一个很好的遗传标记。
In this study, we detected the restriction fragment length polymorphism of the apoA-I gene region in 56 normal individuals using a 1 kb apoA-I cDNA probe. The S 2 mutation site was first reported in Chinese Han population. The gene frequency was 0.143, higher than Caucasians (0.06). The detection of S 2 gene and the acquisition of gene frequency provide a good genetic marker for further revealing the role of apoA-I gene in lipid metabolism.