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

Table 3.

Detection of Allelic Association from DNA Pools

Locus Associated allele (bp) Direct counts Pool estimates
T U χ2 Pvalue T U z Pvalue
D13S792 287 30 12 13.0 <0.001 0.68 0.34 3.53 0.001
D13S317 191 40 18 18.6 <0.001 0.83 0.37 4.88 <0.001
D13S921 214 36 14 16.7 <0.001 0.56 0.16 4.33 <0.001
D13S790 183 30 9 17.8 <0.001 0.66 0.21 4.72 <0.001
D13S764 314 30 14 10.7 0.004 0.64 0.22 4.41 <0.001
GATA8G07 197 31 23 2.2 N.S. 0.64 0.42 2.3 N.S.
D13S628 250 29 13 10.1 0.007 0.46 0.32 1.49 N.S.

  • Seven 13q genetic markers near the HSCR susceptibility locus were used to assess linkage disequilibrium by direct genotyping and from quantitation in DNA pools. The statistical significance (P value) of differences in allele counts/frequencies on transmitted (T) vs. untransmitted (U) chromosomes in Mennonites segregating HSCR were assessed either by a χ2 or a normal deviate test.

  • ↵(N.S.) Not significant.

This Article

  1. Genome Res. 8: 111-123

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