Figure 2
A, B. Validation of the CGP assay using Fmix vs. Fmix (A), or Fmix vs. Mmix (B). The horizontal axis displays 132 loci of chromosome X and 60 loci of chromosome 17. The vertical axis represents test/reference log2 fluorescence ratio of each locus. C, D. Sensitivity of CGP for detecting a change in low-level copy number. CGP was performed to determine the copy number of loci in the chromosome X. Fmix DNA (46, XX) was used as a reference DNA for all reactions. The distribution of test/reference fluorescence ratios for the different test samples of chromosome X DNA (C). Vertical axis, the percentage of DNAs; horizontal axis, test/reference fluorescence ratio. The doublet line, bold line, solid line, dotted line and dashed line indicate the Mmix/Fmix, Fmix/Fmix, 47, XXX/Fmix, 48, XXXX/Fmix and 49, XXXXX/Fmix fluorescence ratios, respectively. The mean relative ratios of autosomal DNAs (dotted line) and chromosome X DNA (solid line) from each experiment versus the number of X chromosomes (D). Mean (± 1 s.d.) fluorescence ratios of chromosome X DNA were as follows; XY versus XX, 0.69 (0.49–0.89); XX versus XX, 1.00 (0.84–1.15); XXX versus XX, 1.37 (1.10–1.64); XXXX versus XX, 1.62 (1.21–2.02); XXXXX versus XX, 2.08 (1.63–2.52). A dotted line for chromosome X and a solid line for autosomal mean fluorescence ratios were fitted using standard regression analysis.