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Table 3 COL7A1 mutations identified in RDEB families undergoing prenatal diagnosis

From: Prenatal Diagnosis for Recessive Dystrophic Epidermolysis Bullosa in 10 Families by Mutation and Haplotype Analysis in the Type VII Collagen Gene (COL7A1)

        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