Table 3 COL7A1 mutations identified in RDEB families undergoing prenatal diagnosis
Method of Verification | ||||||||
|---|---|---|---|---|---|---|---|---|
Family | Intragenic Location | Primer Sequence | Annealing Temperature (°C) | Fragment Size (bp) | Mutation | Designation | ASO | Enzyme Digestion |
B | Exon 6 | L 5′-GTGTACCCTGACCTAGACCC-3′ R 5′-GAGGTCACTTTATCTTGCCC-3′ | 55 | 369 | C-to-T transition exon 6 nt 751 | Q251X | − | RsaI |
C | Exons 103–109 | L 5′-CGGGCTCGTTGTATTCTAAG-3′ R 5′-CAAAAGCTACCACACTGGTG-3′ | 55 | 513 | 1 bp deletion of C exon 104 | 7729delC | + | − |
D | Exons 13–15 | L 5′-CACTGCCATCGTCCCACATC-3′ R 5′-GGTCTGAAAGAGCAATGGAG-3′ | 57 | 724 | C-to-T transition exon 13 nt 1732 | R578X | − | TaqI |
E | Exons 7–9 | L 5′-GGCTGGGCAAGATAAAGTGA-3′ R 5′-CGTCCCAGCCTGCAGAAAGT-3′ | 55 | 667 | 1 bp deletion of G exon 7 | 884delG | + | − |
F | Exons 96–97 | L 5′-TC GTGAGGACTTAGGATGGG-3′ R 5′-GAGGTTGGAAATCAGAGGCA-3′ | 57 | 383 | C-to-T transition exon 97 nt 7411 | R2471X | − | DdeI |
Exons 107–108 | L 5′-GTACAGAGGGGATGGGGGCT-3′ R 5′-AGCCTTCCTTGTCCCTACAC-3′ | 59 | 358 | G-to-A transition exon 107 nt 7957 | G2653R | − | SmaI | |
G | Exon 18 | L 5′-GCTGCCTAAAGTGACCTGTC-3′ R 5′-GCATACAGCAATGGTTAGGG-3′ | 55 | 316 | G-to-A transition exon 18 nt 2387 | W796X | − | BfaI |
H | Exons 77–79 | L 5′-ACCCTCTGCCATGGCACTAG-3′ R 5′-ACAGACAGCAGCAGCAGCAC-3′ | 55 | 569 | G-to-A transition exon 79 nt 6501 | 6501G→A | − | HphI |
Exons 107–108 | L 5′-GTAC AGAGGGGATGGGGGCT-3′ R 5′-AGCCTTCCTTGTCCCTACAC-3′ | 59 | 358 | G-to-C transversion exon 108 nt 8020 | G2674R | − | BstNI | |
I | Exons 69–71 | L 5′-TGAGTGCGGATGTTGGGTAG-3′ R 5′-AGCAAGAGGTCAGAGGAGCG-3′ | 55 | 759 | 1 bp deletion of C exon 70 | 5818delC | − | AciI |
J | Exons 114–115 | L 5′-CCCTCTGCCTGTGTGTCTCT-3′ R 5′-CTGCATTCATGGACACCCAT-3′ | 59 | 418 | C-to-T transition exon 114 nt 8439 | R2814X | − | PmlI |