Table 1 Multiplex ligation‐dependent probe amplification probes and polymerase chain reaction products in control participants.
| Target | Upstream probe | Downstream probe | PCR product size (bp) | Control values (n = 18) | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Exon | Name | Location | Length (base) | Name | Location | Length (base) | Peak area (mean (SD)) arbitrary unit | Relative peak area (mean (SD))* | SD/mean (%) | |
| GLDC | Exon 1 | M‐GLDC‐E1U | Exon 1 | 50 | M‐GLDC‐E1D | Intron 1 | 50 | 100 | 26557 (1944) | 11.52 (0.57) | 5 |
| Exon 2 | M‐GLDC‐E2U | Exon 2 | 54 | M‐GLDC‐E2D | Intron 2 | 54 | 108 | 41534 (1673) | 18.04 (0.47) | 3 | |
| Exon 3 | M‐GLDC‐E3U | Exon 3 | 58 | M‐GLDC‐E3D | Intron 3 | 58 | 116 | 44796 (1710) | 19.46 (0.31) | 2 | |
| Exon 4 | M‐GLDC‐E4U | Exon 4 | 62 | M‐GLDC‐E4D | Intron 4 | 62 | 124 | 36206 (1716) | 15.72 (0.42) | 3 | |
| Exon 5 | M‐GLDC‐E5U‐2 | Intron 4 | 66 | M‐GLDC‐E5D‐2 | Exon 5 | 66 | 132 | 43086 (2700) | 18.72 (1.07) | 6 | |
| Exon 6 | M‐GLDC‐E6U | Exon 6 | 70 | M‐GLDC‐E6D | Intron 6 | 70 | 140 | 42903 (1261) | 18.64 (0.30) | 2 | |
| Exon 7 | M‐GLDC‐E7U | Exon 7 | 74 | M‐GLDC‐E7D | Intron 7 | 74 | 148 | 36397 (1739) | 15.80 (0.33) | 2 | |
| Exon 8 | M‐GLDC‐E8U | Exon 8 | 78 | M‐GLDC‐E8D | Intron 8 | 78 | 156 | 26102(1643) | 11.34 (0.71) | 6 | |
| Exon 9 | M‐GLDC‐E9U | Exon 9 | 84 | M‐GLDC‐E9D | Intron 9 | 80 | 164 | 30208 (1499) | 13.15 (0.37) | 3 | |
| Exon 10 | M‐GLDC‐E10U | Exon 10 | 92 | M‐GLDC‐E10D | Intron 10 | 80 | 172 | 19567 (1174) | 8.49 (0.25) | 3 | |
| Exon 11 | M‐GLDC‐E11U | Exon 11 | 100 | M‐GLDC‐E11D | Intron 11 | 80 | 180 | 24892 (1987) | 10.80 (0.61) | 6 | |
| Exon 12 | M‐GLDC‐E12U | Exon 12 | 108 | M‐GLDC‐E12D | Intron 12 | 80 | 188 | 16336 (949) | 7.09 (0.21) | 3 | |
| Exon 13 | M‐GLDC‐E13U‐2 | Exon 13 | 112 | M‐GLDC‐E13D | Intron 13 | 80 | 192 | 23856 (1097) | 10.36 (0.26) | 2 | |
| Exon 15 | M‐GLDC‐E15U | Exon 15 | 52 | M‐GLDC‐E15D | Intron 15 | 52 | 104 | 45980 (1888) | 19.97 (0.54) | 3 | |
| Exon 16 | M‐GLDC‐E16U | Exon 16 | 56 | M‐GLDC‐E16D | Intron 16 | 56 | 112 | 40630 (1275) | 17.66 (0.53) | 3 | |
| Exon 17 | M‐GLDC‐E17U | Exon 17 | 60 | M‐GLDC‐E17D | Intron 17 | 60 | 120 | 43310 (1651) | 18.82 (0.57) | 3 | |
| Exon 18 | M‐GLDC‐E18U‐2 | Intron 17 | 64 | M‐GLDC‐E18D‐2 | Exon 18 | 64 | 128 | 20771 (1002) | 9.02 (0.31) | 3 | |
| Exon 19 | M‐GLDC‐E19U | Exon 19 | 68 | M‐GLDC‐E19D | Intron 19 | 68 | 136 | 33266 (1049) | 14.45 (0.28) | 2 | |
| Exon 20 | M‐GLDC‐E20U | Exon 20 | 72 | M‐GLDC‐E20D | Intron 20 | 72 | 144 | 27145 (1199) | 11.79 (0.32) | 3 | |
| Exon 21 | M‐GLDC‐E21U | Exon 21 | 76 | M‐GLDC‐E21D | Intron 21 | 76 | 152 | 26832 (1246) | 11.65 (0.24) | 2 | |
| Exon 22 | M‐GLDC‐E22U | Exon 22 | 80 | M‐GLDC‐E22D | Intron 22 | 80 | 160 | 23008 (1083) | 10.00 (0.51) | 5 | |
| Exon 23 | M‐GLDC‐E23U | Exon 23 | 88 | M‐GLDC‐E23D | Intron 23 | 80 | 168 | 20375 (1428) | 8.84 (0.38) | 4 | |
| Exon 24 | M‐GLDC‐E24U‐2 | Intron 24 | 96 | M‐GLDC‐E24D‐2 | Exon 24 | 80 | 176 | 20051 (609) | 8.72 (0.31) | 4 | |
| Exon 25 | M‐GLDC‐E25U | Exon 25 | 104 | M‐GLDC‐E25D | Intron 25 | 80 | 184 | 29957 (1235) | 13.10 (0.25) | 2 | |
| GLDCP | Processed pseudogene | M‐GLDC‐E1U† | Pseudogene | 50 | M‐GLDCP‐1D | Pseudogene | 47 | 97 | 33495 (1483) | – | – |
| EXT2 | Exon 13 | M‐EXT2‐E13U | Exon 13 | 41 | M‐EXT2‐E13D | Exon 13 | 44 | 85 | 67822 (4013) | – | – |
| AMT | Exon 1 | M‐AMT‐E1U | Exon 1 | 44 | M‐AMT‐E1D | Intron 1 | 44 | 88 | 51455 (2056) | – | – |
| Exon 4 | M‐AMT‐E4U | Exon 4 | 45 | M‐AMT‐E4D | Intron 4 | 46 | 91 | 27010 (1212) | – | – | |
| Exon 9 | M‐AMT‐E9U‐2 | Intron 8 | 47 | M‐AMT‐E9D‐2 | Exon 9 | 47 | 94 | 50490 (2102) | – | – | |
PCR, polymerase chain reaction.
*Peak area of each GLDC exon/sum of peak areas of GLDCP, EXT2, AMT exon 1, AMT exon 4 and AMT exon 9; †shared with upstream primer for GLDC exon 1.