新疆石河子地区哈萨克族载脂蛋白E基因多态性的检测

Determination of apolipoprotein E gene polymorphism in the KarzaKan population in Shihezi area in Xinjiang

目的初步了解新疆石河子地区哈萨克族自然人群载脂蛋白E(apo E)基因多态性和表型分布特征,建立石河子地区哈萨克族apo E基因遗传资源库,并建立一种快速、敏感的apo E基因多态性分析的方法,为临床今后开展apo E基因分型提供实验室依据。方法采用聚合酶链反应(PCR)特异性扩增apo E基因含编码112位和158位氨基酸的基因序列,用限制性内切酶Hha I酶切,经12%聚丙烯酰胺凝胶电泳观察其片段长度多态性(RFLP),确定PCR产物的基因型。结果新疆石河子地区哈萨克族自然人群apo E基因型频率分布分别是E3/3 65%、E3/4 17%、E2/3 16%、E2/4 1%、E4/4 1%;ε2、ε3、ε4等位基因频率分别是9.0%、81.5%、9.5%。其中ε2等位基因频率明显高于维吾尔族,ε4等位基因频率明显低于维吾尔族,但差异无统计学意义。结论PCR-RFLP简便、敏感、准确,适合一般实验室开展检测及大规模人群调查。

Objective To investigate the frequency distribution of apoliporotein E （apo E） gene polymorphism in the KarzaKan natural population in Shihezi area in Xinjiang and establish the KarzaKan nationality apo E genetic resource reservoir. To establish a rapid and sensitive method for apo E genotyping. Methods The apo E gene sequences containing amino acid positions 112 and 158 were amplified by polymerase chain reaction（PCR）. The PCR products were digested with Hha Ⅰ and subjected to electrophoresis on 12% polyacrylamide gels. The patterns of restriction fragment length polymorphism（RFLP） of apo E gene were distinguished. Results The prevalence of apo E genotype E3/3, E3/4, E2/3, E2/4, E4/4 in KarzaKan population in Shihezi area in Xinjiang were 65%, 17% , 16%, 1% and 1% respectively. The apo E allelic frequencies were 9.0% for 82, 81.5% for 83, 9.5% for e4. The frequence of 82 was higher than that of the Uighur nationality and e4 was significantly lower than that of the Uighur nationality, but there was no statistical significance. Conclusions The PCR-RFLP method is a rapid and accurate technique. This method is suitable for routine laboratories and large-scale population studies.