Table 1 Primers for LDLR breakpoint analysis
Mutation at cDNA level | Primers for long-range PCR (5'→ 3'direction) | Size* (kb) | Primers for precise breakpoint determination (5'→ 3'direction) |
|---|---|---|---|
promoter_ex2del | F: TGTCGCAAATGGCATAAGGAA R: CGGATTTGCAGGTGACAGACA | 2.0 | F: AAGGCTGCAGTGAAGTATGATGG R: GAGACGGAGTCTCACTCTGTCG |
exon2_6dup | F: AGTTCAAGTGTCACAGCGGC R: GTCTTGGCACTGGAACTCGT | 8.0 | F: AGTTCAAGTGTCACAGCGGC R: CAAGGTTGGCGTTTTTCATATT |
exon3_12del | F: CCAGAAGATTCCAGAAATTTCCAG R: CCTTTCTCCTTTTCCTCTCTCTCA | 3.5 | F: TGGCTCACTGCAAGCTCCG R: AGGCTGGAGTCCAGTGGTACC |
exon4_8dup | F: CAAGTGCCAGTGTGAGGAAGG R: CCCTTGGAACACGTAAAGACCC | 2.5 | F: CACGTGACTTCAAGGGGTTAAAG R: TTCTCTAAAATGCTTGGGACCA |
exon5_10del | F: CACCTGCATCCCCCAGCTGTGGGC R:TGGCTGGGACGGCTGTCCTGCGAAC | 3.0 | F: TTTGTACAGACACAGGCTGGTC R: CAGATGTCACCTGACAGGTACAG |
exon9_14del | F: GGAGTGACTTCAAGGGGTTAAAG R: AGGTGGCTCAGGCTGGGC | 0.5 | F: GGAGTGACTTCAAGGGGTTAAAG R: AGGTGGCTCAGGCTGGGC |
exon9_15del | F: CACGTGATCGTCCCGCCTA R: AAATTCTTGTCAACCTACTTGTGC | 0.8 | F: AAATTCTTGTCAACCTACTTGTGC R: CACGTGATCGTCCCGCCTA |
exon16_18dup | F: CGTGAACATCTGCCTGGAGTC R: TCTTCTCATTTCCTCTGCCAGC | 3.0 | F: TCGTGTGTGTTGGGATGGGA R: ACCCCAGCCCCCAAACTAAA |