Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes

Table 2.

Accuracy of Allele Estimates from DNA Pooling

Allele (bp) Pool Average (s.d.) Direct estimate
1 2 3 4 5 6 7 8 9 10
138 0.08 0.09 0.09 0.09 0.09 0.09 0.08 0.08 0.09 0.08 0.086 (0.003) 0.081 (0.022)
142 0.04 0.04 0.05 0.04 0.04 0.05 0.04 0.04 0.04 0.04 0.043 (0.002) 0.054 (0.018)
146 0.26 0.27 0.27 0.27 0.25 0.27 0.26 0.27 0.26 0.26 0.262 (0.005) 0.264 (0.036)
150 0.31 0.30 0.30 0.29 0.31 0.28 0.30 0.30 0.30 0.30 0.298 (0.007) 0.257 (0.035)
154 0.21 0.20 0.20 0.20 0.20 0.20 0.20 0.20 0.21 0.20 0.201 (0.004) 0.209 (0.033)
158 0.10 0.11 0.11 0.11 0.11 0.12 0.12 0.10 0.11 0.11 0.110 (0.005) 0.128 (0.027)
162 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.000 (0.000) 0.007 (0.007)
  • A tetranucleotide polymorphism within the VWF gene (12p13.3–12p13.2) was studied in 10 replicates of a single DNA pool constructed from 76 unrelated samples of CEPH parents. Quantitation of allele frequencies from relative fluorescence peak heights in each replicate, the average of these 10 replicates, and the corresponding estimate from direct genotyping are shown. Also shown in the last two columns are the estimated standard deviations from the 10 replicates and the direct counts, respectively.

This Article

  1. Genome Res. 8: 111-123

Preprint Server