Results of the SALL4 real time polymerase chain reaction applied to patient DNA samples of six families with Okihiro/DRR or acro-renal-ocular syndrome
| Family | Amplicon position | ||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 10 kb | 16 kb | 41 kb | 49 kb | 65 kb | 81 kb | Ex 1 | 104 kb | 111 kb | Ex 2 | Ex 3 | Ex 4 | 135 kb | 146 kb | 161 kb | 172 kb | 175 kb | 194 kb | 217 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 | |||||||||||||||||||
| 1 | 0.99 | 1.03 | 1.05 | 1.05 | 0.50 | 0.52 | 0.55 | 0.54 | 0.54 | 0.52 | 0.49 | 0.96 | 1.02 | 1.01 | 1.03 | 1.03 | 1.05 | 0.97 | 0.96 |
| 2 | 0.56 | 0.49 | 0.55 | 0.56 | 0.46 | 0.47 | 0.51 | 0.47 | 0.49 | 0.50 | 0.50 | 0.53 | 0.55 | 0.99 | 0.99 | 0.99 | 0.99 | 1.00 | 1.02 |
| 3 | 1.03 | 0.97 | 1.02 | 0.97 | 0.97 | 0.98 | 0.52 | 0.49 | 0.47 | 0.52 | 0.52 | 1.04 | 0.49 | 0.97 | 0.99 | 1.05 | 0.98 | 1.00 | 1.05 |
| 4 | 1.03 | 1.05 | 1.02 | 1.01 | 1.00 | 0.99 | 0.47 | 0.55 | 0.51 | 0.54 | 0.47 | 0.50 | 0.54 | 1.02 | 1.03 | 0.97 | 1.04 | 1.02 | 0.98 |
| 5 | 1.05 | 1.02 | 0.98 | 1.01 | 0.96 | 0.96 | 0.98 | 1.00 | 0.99 | 1.04 | 1.02 | 0.51 | 0.57 | 1.05 | 1.00 | 1.01 | 1.00 | 1.06 | 0.97 |
| 6 | 1.02 | 0.98 | 1.05 | 0.98 | 1.00 | 0.95 | 0.52 | 1.04 | 0.96 | 1.02 | 1.05 | 0.98 | 1.05 | 1.03 | 1.05 | 1.05 | 1.03 | 0.97 | 0.98 |