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目的探讨DNA池结合焦磷酸测序技术(DNA pooling and pyrosequencing,DNA pooling-PSQ)在病例-对照关联性研究中的适用性。方法利用前期获取的傣族高血压病例与健康对照样本及基因分型结果,选取有序列复杂性及频率代表性的4个SNP位点,用DNA pooling-PSQ分别对由453例傣族高血压患者及488例傣族对照构建的DNA池进行等位基因频率测定,所得结果与用SNa Pshot逐一分型计数所得结果进行比较。结果 DNA pooling-PSQ法对于非复杂性的中高频率SNP位点等位基因频率估计较为准确,差值在0.9%-2.7%之间,所得关联分析结果与SNa Pshot法一致;但对于复杂SNP rs12046278及低频SNP rs11066280,所得频率与逐一分型法相差值较大,在11.2%-15.6%之间,位点的关联性结果也不一致。结论 DNA pooling-PSQ适用于中频和高频的非复杂性SNPs关联分析。
Objective To investigate the applicability of DNA pooling and pyrosequencing (DNA pooling-PSQ) in the case-control study. METHODS: Four SNPs with sequence complexity and frequency-specificity were selected from the cases of prehypertension and healthy controls and the genotyping results of Dai population. DNA pooling-PSQ was used to detect the genetic polymorphisms of 453 Dai patients with hypertension, 488 Dai control DNA pools constructed allele frequency determination, the results obtained with the SNa Pshot one by one type of counting the results were compared. Results The results of DNA pooling-PSQ showed that the frequencies of SNPs in high-frequency and non-complex SNPs were more accurate, with the difference being between 0.9% and 2.7%. The correlation analysis was consistent with SNa Pshot method. However, for SNP rs12046278 And low-frequency SNP rs11066280. The difference between the obtained frequency and the one-by-one typing method is relatively large, ranging from 11.2% to 15.6%. The results of the association of the sites are also inconsistent. Conclusion DNA pooling-PSQ is suitable for non-complex SNPs association analysis of mid-frequency and high-frequency.