On the use of DNA pooling to estimate haplotype frequencies
On the use of DNA pooling to estimate haplotype frequencies
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DOI：
10.1002/gepi.10195
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发表时间：
2003-01-01
影响因子：
2.1
通讯作者：
Zhao, HY
中科院分区：
文献类型：
--
作者：
Wang, S;Kidd, KK;Zhao, HY
全基因组关联研究对于确定某些复杂疾病的潜在基因可能是必要的。由于这些研究可能非常昂贵，因此引入了DNA池，因为它可以大大减少基因分型的负担。与DNA池的发展平行，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合并可能会丢失紧密连锁的遗传标记之间的单倍型信息。在这里，我们研究的成本效益的DNA池在估计单倍型频率从人口数据。当单倍型频率的最大似然估计是从合并样本中获得的，我们比较了研究的总体成本，包括DNA收集和标记基因分型，个体基因分型策略和DNA合并策略之间。我们发现，两个人的DNA池可以更符合成本效益比个人基因分型，特别是当大量的单倍型系统进行了研究。
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.