Wang Shuang, Kidd Kenneth K, Zhao Hongyu
Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, Connecticut 06520-8034, USA.
Genet Epidemiol. 2003 Jan;24(1):74-82. doi: 10.1002/gepi.10195.
Genome-wide association studies may be necessary to identify genes underlying certain complex diseases. Because such studies can be extremely expensive, DNA pooling has been introduced, as it may greatly reduce the genotyping burden. Parallel to DNA pooling developments, the importance of haplotypes in genetic studies has been amply demonstrated in the literature. However, DNA pooling of a large number of samples may lose haplotype information among tightly linked genetic markers. Here, we examine the cost-effectiveness of DNA pooling in the estimation of haplotype frequencies from population data. When the maximum likelihood estimates of haplotype frequencies are obtained from pooled samples, we compare the overall cost of the study, including both DNA collection and marker genotyping, between the individual genotyping strategy and the DNA pooling strategy. We find that the DNA pooling of two individuals can be more cost-effective than individual genotypings, especially when a large number of haplotype systems are studied.
全基因组关联研究对于识别某些复杂疾病背后的基因可能是必要的。由于此类研究可能极其昂贵，因此引入了DNA池化技术，因为它可以大大减轻基因分型的负担。与DNA池化技术的发展并行，单倍型在遗传研究中的重要性已在文献中得到充分证明。然而，大量样本的DNA池化可能会丢失紧密连锁遗传标记之间的单倍型信息。在这里，我们研究了从群体数据估计单倍型频率时DNA池化的成本效益。当从混合样本中获得单倍型频率的最大似然估计时，我们比较了个体基因分型策略和DNA池化策略之间研究的总体成本，包括DNA收集和标记基因分型。我们发现，两个人的DNA池化可能比个体基因分型更具成本效益，尤其是在研究大量单倍型系统时。
