title: Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium.
abstract: 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.
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, EPS/8030, Bethesda, MD 20892-7244, USA. pfeiffer@mail.nih.gov
authors.forename: Ruth M
authors.initials: RM
authors.lastname: Pfeiffer
authors.forename: Joni L
authors.initials: JL
authors.lastname: Rutter
authors.forename: Mitchell H
authors.initials: MH
authors.lastname: Gail
authors.forename: Jeffery
authors.initials: J
authors.lastname: Struewing
authors.forename: Joseph L
authors.initials: JL
authors.lastname: Gastwirth
mesh_terms: D000483:Alleles; D002353:Carrier State; D004247:DNA / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D016013:Likelihood Functions; D015810:Linkage Disequilibrium; D008957:Models, Genetic; D011336:Probability
chemical_list: D004247:DNA