Pfeiffer Ruth M, Rutter Joni L, Gail Mitchell H, Struewing Jeffery, Gastwirth Joseph L
Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, EPS/8030, Bethesda, MD 20892-7244, USA.
Genet Epidemiol. 2002 Jan;22(1):94-102. doi: 10.1002/gepi.1046.
Pooling DNA samples can yield efficient estimates of the prevalence of genetic variants. We extend methods of analyzing pooled DNA samples to estimate the joint prevalence of variants at two or more loci. If one has a sample from the general population, one can adapt the method for joint prevalence estimation to estimate allele frequencies and D, the measure of linkage disequilibrium. The parameter D is fundamental in population genetics and in determining the power of association studies. In addition, joint allelic prevalences can be used in case-control studies to estimate the relative risks of disease from joint exposures to the genetic variants. Our methods allow for imperfect assay sensitivity and specificity. The expected savings in numbers of assays required when pooling is utilized compared to individual testing are quantified.
合并DNA样本可以有效地估计遗传变异的流行率。我们扩展了分析合并DNA样本的方法，以估计两个或更多位点变异的联合流行率。如果有来自普通人群的样本，可以采用联合流行率估计方法来估计等位基因频率以及连锁不平衡的度量D。参数D在群体遗传学以及确定关联研究的效能方面至关重要。此外，联合等位基因流行率可用于病例对照研究，以估计因联合暴露于遗传变异而导致疾病的相对风险。我们的方法考虑了检测灵敏度和特异性的不完善。与单独检测相比，利用合并样本时所需检测次数的预期节省量得到了量化。
