高分辨熔解曲线检测潮汕汉族人群的载脂蛋白E基因多态性

Investigation of the apolipoprotein E gene polymorphism in Han population by high resolution melting in Chaoshan area

目的研究载脂蛋白E(apo E)基因单核苷酸多态性各等位基因及基因型在潮汕汉族人群中的分布频率,比较其在不同种族间分布的差异。方法采用高分辨熔解曲线分型技术检测100例潮汕地区汉族人群的Apo E基因rs429358和rs7412多态性。PCR-测序法作为金标准进行比对。结果在潮汕地区汉族人群中存在Apo E基因rs429358和rs7412多态性。潮汕人的Apo E基因型分布以E3/E3最常见,其次为E4/E3。与非洲及欧洲人群比较,Apo E基因多态性的分布频率均存在显著性差异(P<0.05);而与中国汉人比较差异无显著性(P>0.05)。结论采用高分辨熔解曲线法进行Apo E基因多态性检测,其操作简便省时,不易交叉污染;获得的各种基因类型特征性强,适用于临床陕速诊断分型和遗传学人群研究。Apo E的3种常见等位基因频率分布存在地域差异。

Objective To study the frequencies of allele and genotype distribution of Apo E gene single nucleotide polymorphism （SNP） in Chaoshan Han Chinese population, and to analyze the distributions of Apo E polymorphisms among different races. Methods 100 cases of healthy Chaoshan Hart people were analyzed for two Apo E gene mutations （rs429358 and rs7412） by high resolution melting （HRM）. PCR- Sequencing was used as gold standard. Results Apo E gene rs429358 and rs7412 polymorphism were found in Chaoshan Han population. The most common Apo E genotype was E3/E3, followed by E4/E3. Compared with African and European populations, the frequency distribution of Apo E gene polymorphism were significantly different （P〈0.05）. Compared with other Han Chinese populations, the frequency distribution of Apo E gene polymorphism were not significant difference （P〉0.05）. Conclusion HRM was a simple, time-saving and not easy to cross-contamination method to detect the Apo E mutations for clinical diagnosis and genetic population investigation. There were regional differences of 3 kinds of common allele frequency distribution ofApo E.