Table 1. UPL Probes used for validation of PRPF31 heterozygous deletion.
The amplicon position is that reported by UCSC genome browser (hg19) in silico PCR tool. All primers are listed 5’ to 3’.
| Gene Symbol-Probe Name | Gene | Amplicon Position | UPL Probe # | Left Primer2 | Right Primer2 |
|---|---|---|---|---|---|
| PRPF31–345 | PRP31 pre-mRNA processing factor 31 homolog | chr19:54,619,134–54,619,198 (exon 1) | 55 | ggtgagcgactaacgctagaa | cgtggtctccatcacactca |
| PRPF31–3068 | PRP31 pre-mRNA processing factor 31 homolog | chr19:54,621,857–54,621,932 (intron 3) | 14 | ctagcagggggctctagaca | gtcagaatccagcactcttcaa |
| PRPF31–8679 | PRP31 pre-mRNA processing factor 31 homolog | chr19:54,627,468–54,627,530 (intron 7) | 7 | gggaaaaacactcacccaca | gtggtcatctctgggtttcc |
| PRPF31–10932 | PRP31 pre-mRNA processing factor 31 homolog | chr19:54,629,721–54,629,783 (intron 8) | 17 | ctgccctcatcccctctt | cccttgggctctagaggtgt |
| PRPF31–15386 | PRP31 pre-mRNA processing factor 31 homolog | chr19:54,634,175–54,634,248 (intron 13) | 25 | cagtggctgtgcctttcc | gcttcctgtgcgttcttttc |
| RPPH1 | RPPH1 ribonuclease P RNA component H1 | chr14:20,811,245–20,811,337 | 30 | ccggagcttggaacagact | gtagtctgaattgggttatgaggtc |
| GAPDH | Glyceraldehyde 3-phosphate dehydrogenase | chr12:6,645,563–6,645,625 | 10 | gctgcattcgccctctta | gaggctcctccagaatatgtga |
| SNCA | Synuclein, Alpha | chr4:90,743,466–90,743,537 | 68 | gctgagaagaccaaagagcaa | ctgggctactgctgtcacac |