Table 3

‚ÄÉResults of the SALL4 real time polymerase chain reaction applied to patient DNA samples of six families with Okihiro/DRR or acro-renal-ocular syndrome

FamilyAmplicon position
10 kb16 kb41 kb49 kb65 kb81 kbEx 1104 kb111 kbEx 2Ex 3Ex 4135 kb146 kb161 kb172 kb175 kb194 kb217 kb
The normalised ratios (SALL4 amplicon/reference amplicon) are given. Values interpreted as haploid situation (deletion) range from 0.46 to 0.57, whereas diploid situation was assumed for values from 0.95 to 1.06. Exonic amplicons are printed in bold; the grey shading indicates deleted regions. The position numbers refer to the 220 kb region as described in Methods
10.991.031.051.050.500.52 0.55 0.540.54 0.52 0.49 0.96 1.021.011.031.031.050.970.96
20.560.490.550.560.460.47 0.51 0.470.49 0.50 0.50 0.53 0.550.990.990.990.991.001.02
31.030.971.020.970.970.98 0.52 0.490.47 0.52 0.52 1.04 0.490.970.991.050.981.001.05
41.031.051.021.011.000.99 0.47 0.550.51 0.54 0.47 0.50 0.541.021.030.971.041.020.98
51.051.020.981.010.960.96 0.98 1.000.99 1.04 1.02 0.51 0.571.051.001.011.001.060.97
61.020.981.050.981.000.95 0.52 1.040.96 1.02 1.05 0.98 1.051.031.051.051.030.970.98