Sham Pak, Bader Joel S, Craig Ian, O'Donovan Michael, Owen Michael
P080, Institute of Psychiatry, King's College, Denmark Hill, London SE5 8AF, UK.
Nat Rev Genet. 2002 Nov;3(11):862-71. doi: 10.1038/nrg930.
DNA pooling is a practical way to reduce the cost of large-scale association studies to identify susceptibility loci for common diseases. Pooling allows allele frequencies in groups of individuals to be measured using far fewer PCR reactions and genotyping assays than are used when genotyping individuals. Here, we discuss recent developments in quantitative genotyping assays and in the design and analysis of pooling studies. Sophisticated pooling designs are being developed that can take account of hidden population stratification, confounders and inter-loci interactions, and that allow the analysis of haplotypes.
DNA 池化是一种切实可行的方法,可降低大规模关联研究的成本,以识别常见疾病的易感基因座。与对个体进行基因分型时相比,池化能够使用少得多的 PCR 反应和基因分型检测来测量个体组中的等位基因频率。在此,我们讨论定量基因分型检测以及池化研究的设计与分析方面的最新进展。正在开发复杂的池化设计,其能够考虑隐藏的群体分层、混杂因素和基因座间相互作用,并能够对单倍型进行分析。