Table 1 Self-designed MLPA probes used in the molecular analysis of EDNRB, GFRa1, NRTN and PHOX2B CNVs of 208 HSCR patients.
Exon | Probe Oligo Sequence* | bp | |
|---|---|---|---|
EDNRB | EDNRBen1Δ3 | LPO TCTGGCGGTGATTGATGGGAAG | 100 |
RPO GGATGAATGAATAAAAGTACTTGTCTGATGGCACCC | |||
EDNRBex1 | LPO TCTACAAGAACAAGTGCATGCGAAACG | 112 | |
RPO GTCCCAATATCTTGATCGCCAGCTTGCCATCAATCGCCATTCGA | |||
EDNRBex2 | LPO GGCAGAGGACTGGCCATTTGGAG | 90 | |
RPO CTGAGATGTGTAAGCTGGTGCCTTT | |||
EDNRBex3 | LPO CGACAGCAGTAGAAATTGTTTTGATTTGGGTG | 128 | |
RPO GTCTCTGTGGTTCTGGCTGTCCCTGAAGAGGTTTTGTGTACGGACCTAAAGTTC | |||
EDNRBex4 | LPO TGGCATGCAGATTGCTTTAAATGATCAC | 113 | |
RPO CTAAAGCAGGTAAGAAAATACAAATATTGAGAGGGACACGGCG | |||
EDNRBex5 | LPO GTGGCCAAAACCGTCTTTTGCCTG | 93 | |
RPO GTCCTTGTCTTTGCCCTCTGCTGGCTT | |||
EDNRBex6 | LPO CGATGCTATTCACATAACCCAATTGCTCTGTATTTGGTGAG | 130 | |
RPO GTGAGCAAAAGATTCAAAAACTGCTCTTGGAGGAAGTCGAGGAGTAC | |||
EDNRBex7 | LPO GCAGTCGTGCTTAAAGTTCAAAG | 99 | |
RPO CTAATGATCACGGATATGACAACTTTGCTGAGTG | |||
GFRα1 | GFRa1ex1 | LPO CCTAGCGCAGATAAAGTGAGCCCGGAAAG | 135 |
RPO GGAAGGAGGGGGCGGGGACACCATTGCTATAGACGTAGCTGTGAGTACCAACCGAATAGCAATC | |||
GFRa1ex2 | LPO CAACGACTAGAGAGGCACCATGTTCCTGGCGACC | 127 | |
RPO GATGGAGCTGAACTTTGGGCGGCCAGTGACTGCCTTGAAGGTCTCACGGCT | |||
GFRa1ex3 | LPO GGAGAAGAACTGCCTGCGCATTTACTGGAG | 96 | |
RPO CATGTACCAGAGCCTGCAGGGTAC | |||
GFRa1ex4 | LPO GGAGGATTCCCCATATGAACCAGTTAACAG | 100 | |
RPO CAGATTGTCAGATATATTCCGGGTGGTC | |||
GFRa1ex5 | LPO CAGGCACTTGAGGATTTCCCAGGTAGGACCCTCTAGTTGCAG | 131 | |
RPO GAAAACAAGGTCAGGGCTGCCACTGGTTCTATAATACAATGGAGACG | |||
GFRa1ex6 | LPO GGAACAACTGCCTGGATGCAGCGAAGGCCTG | 108 | |
RPO CAACCTCGACGACATTTGCAAGAAGTACCCGGTAT | |||
GFRa1ex7 | LPO TGCCAGCCAGAGTCAAGGTCTGTCAG | 95 | |
RPO CAGCTGTCTAAAGGAAAACTACGCTGA | |||
GFRa1ex8 | LPO CCATACATCACCGCATTCTCGCAGAAGAGCCTCAGTGTGGCCCCATGGTGTGACTG | 132 | |
RPO CAGCAACAGTGGGAACGACCTAGAAGAGTGCTTG | |||
GFRa1ex9a | LPO GAGGAAGTTCAATGGCTCCGATGTGACCGTGTGGCAG | 108 | |
RPO CCAGCCTTCCCAGTACAGACCACCACTGC | |||
GFRa1ex9b | LPO CCAATTGACCACCTATGGGCCCAGTCC | 140 | |
RPO CCAGTCAGGTCAAAGAAGAGGGTTTACGTAGACCTCAGTTCACTGGAGTCTGTCGTTTGCTCTATACTCAC | |||
GFRa1ex9c | LPO GGTTCAGGCAACACAGAGACAAAG | 91 | |
RPO CATCTTCAGGGGGAGCAGGTAGAGG | |||
GFRa1ex9d | LPO GTGTCCACTTGTTTTACGCAG | 108 | |
RPO CTGACTTTACTGGACATTATTCAGACCAGTGGTTGGGTGCGCTCG | |||
GFRa1ex10 | LPO GCTGAAATCCAATGTGTCGGGCAATACACAC | 112 | |
RPO CTCTGTATTTCCAATGTAAGTATGGGCGTGGACTCGCAT | |||
GFRa1ex11 | LPO CCAAACTGTGCGCGTGTCGATAAGGTTCCGTTCCCGCCCACTGCTGGTCCTGGTGGTAACC | 136 | |
RPO GCTCTGTCCACCCTATTATCTTTAACAGAAACA | |||
NRTN | NRTNex1 | LPO CGTTCAAAGTCAAAGGCCCCACACTGAGTC | 136 |
RPO CTGGCCCAGCGCCCTGTGCCCGTTGGCTGACGAGAAGTACGGAATCGAATCTATAGTGACCTAT | |||
NRTNex2 | LPO CGAATTAGAGATTTAACTTCCTCCCCTCGCAGACCGTGCACTC | 139 | |
RPO CTGCAGGGGGCCCCGGATGCGATGGAGCTGTTAATACGACTCACTATAGGAGTA | |||
PHOX2B | PHOX2B5'UTR | LPO CTTAAATCATGGGGCCACTGAAGTC | 92 |
RPO CACACACTGCTCGCTCCTTTGT | |||
PHOX2Bex1A | LPO CCTCAATTCCTCTGCCTACGAGTC | 88 | |
RPO CTGTATGGCTGGGATGGACACC | |||
PHOX2Bex1B | LPO CCAGTGGCTTCCAGTATAACCCGATAAGGAC | 96 | |
RPO CACTTTTGGGGCCACGTCCGGCT | |||
PHOX2Bex2 | LPO CTGTCATACTCTAGTTCCTTACAAACTCTTCAC | 108 | |
RPO GGACCACGGCGGCCTCAACGATGCAAGCGACAT | |||
PHOX2Bex3A | LPO TCTTCTTTCTCCCCCTGCTTCACCGTCTCTC | 112 | |
RPO CTTCCGTCTTGGGCCAGGTGTGGTTCCAGAATTTACTAA | |||
PHOX2Bex3B | LPO CGTCCTATCTTCGCTCCAAAGACCCAACG | 100 | |
RPO GTGCCAAAGCCGCCTTAGTGAAGAGCAGT | |||
PHOX2B3'UTR | LPO CTTTTTCATTGAGGGCCTAAAGTAATCGCGCTAAGAATAAAG | 126 | |
RPO GGAAAACGGCGTCGCCCTCATTTGCAAACTGTGCGGGTGTCG | |||
Reference genes | TOR1A | LPO GCACCGGCAAAAATTTCGTCAGCAAGATCAT | 104 |
RPO CGCAGAGAATATTTACGAGGGTGGTCTGAAC | |||
EPO | LPO GCCTCAGCTGCTCCACTCCGAACAATCACTG | 117 | |
RPO CTGACACTTTCCGCAAACTCTTCCGAGTCTAGATAGTTCCAACAA | |||
SS18 | LPO CGACAGCATTACGAAGCACAGCAGCCACCTATGGGAATGATG | 122 | |
RPO GGTCAAGTTAACCAAGGCAATCATATGATGCGATATGC |