Table 1. .
Primers Used for PCR Amplification and Sequencing of CoQ10 Biosynthetic Genes[Note]
| Primer (5′→3′) |
|||
| Gene-Exon | Forward | Reverse | PCR Conditiona |
| PDSS2-Exon 1 | CGGGTACGCCGTAAAGTAGA | ATGAGTGCGAGTGTGTCAGC | A |
| PDSS2-Exon 2 | ATTTTCCTCCCTGACCCTGT | TTTCCACTGACCTCTGTCCA | A |
| PDSS2-Exon 3 | GGGGGCAACCTATGGAATA | AGCTCCAGCAGCCAACTAAT | A |
| PDSS2-Exon 4 | TGCCATTTGCTGAGATCTTG | TCTAGTTGTACCACGACGGTTT | A |
| PDSS2-Exon 5 | GCAGTTTTCCCACCACATTC | GGCAAAAGGTTTCTTGTGTG | A |
| PDSS2-Exon 6 | ACTGCACCTGGCCTGAAATA | CTTGTGCGAGAGTCCACAGA | A |
| PDSS2-Exon 7 | AAAGGGGGACAGAGAAGCTG | CCACATGCTATTGGCCTGTTA | A |
| PDSS2-Exon 8 | GCCTCAAGATCACTGGGAAA | CTTCTGGCGTGACAAGTGAA | A |
| COQ2-Exon 1 | TGCCTTTTGCCAATAGAA | CAGCCAAGCCCAAGCTTT | B |
| COQ2-Exon 2 | CTCAGTTTTGTCATTTGT | TTTCTGTGGTCACTGAAT | B |
| COQ2-Exon 3 | GCCAGTCTCTTCATT | TGCTTAATAAGTAGCAAA | C |
| COQ2-Exon 4 | AGTATTACTTATGTCATT | CTACTATTGGTTAGGAAA | C |
| COQ2-Exon 5 | ATGCCACTCCTTCCCTTT | CTCCTTAATTTGGTTCTT | D |
| COQ2-Exon 6 | CTAAATCTGATACTTCAA | CACAGAGGGCATACTGTT | D |
| COQ2-Exon 7A | TGTTTTCTCCTCCGTGTT | AAATTCTCCTAAAACATA | C |
| COQ2-Exon 7B | AAGAATTAAGAACCTGAA | AAATATGCTCTAAATCTT | A |
| COQ3-Exon 1 | TCTCGGAACCTTTATGTTGG | TATGCGAGGTTTACAATGGA | A |
| COQ3-Exon 2 | GGCTACAGTGAGCCATGATT | TTACCGTTTCTGTGGGTTTG | A |
| COQ3-Exon 3 | AAAACTTGGTTTTAAAGCATCA | TCTCCCTAATTTCCAAAGCA | A |
| COQ3-Exon 4 | CTTTAAGCATCCTGCTTTTGA | TCCCAACATGCATTTCTTTT | A |
| COQ3-Exon 5 | TGAGTTTCCATGTACCCATAAA | AGGCTTCCTGGTTTCTTCTC | A |
| COQ3-Exon 6 | TGGCACTCAGATTATTTGGAA | GTTAGGGGGCAACAGGTAAA | A |
| COQ3-Exon 7 | ACGCTTGCCCATTAAGTTAG | GGCAACAGAGTGAGACCCTA | A |
| COQ4-Exon 1 | CTGGACCTGGACGGAAGTA | AAAAGGCCGAGGTCAGAG | A |
| COQ4-Exon 2 | CTCTGACCTCGGCCTTTT | TCATAAACGTTCCGAGTGGT | A |
| COQ4-Exon 3 | AGGAAACAAAGGCTCAGACC | AGCCAGGGTATCAAAAGCTC | A |
| COQ4-Exon 4 | CTCGCTGTAGTTGGATCGTT | CTCCTCTTTCCTCAGGGTGT | A |
| COQ4-Exon 5 | CCAGTCGCCAGAGTTTTCTA | GACATGTGGCAAAGATGCTA | A |
| COQ4-Exon 6 | ACAGCTGACCCCGTAGAGAT | TTCTACCCTTACTTCCTGGAGA | A |
| COQ4-Exon 7 | GCCTTTGTGAGGATGAACTG | GCTGGGAGGGAAACTTCTAC | A |
| COQ5-Exon 1 | GCGCGTTCGGCTAATAAT | TGGAACTAATTGGATGTT | E |
| COQ5-Exon 2 | AGTTTCACCTTGCAAA | ATCTTCCGCCTCGTGTT | E |
| COQ5-Exon 3 | TTACCCCTTTGGGTTTTA | TTCAACCTGCCCATCTAT | E |
| COQ5-Exon 4 | CTCAATGCTCTACATGAA | AAACTCTCCTTCTTTCCT | E |
| COQ5-Exon 5 | ATGCCTGCAGAAGCTAAA | ATAGCTTACTGGCTATTT | E |
| COQ5-Exon 6/7 | ATGCCTGCAGAAGCTAAA | ATAGCTTACTGGCTATTT | E |
| COQ6-Exon 1 | GTTTTCCGATTGGCCTAT | ACCTGAGAAATTGTCTTT | E |
| COQ6-Exon 2 | TCATATTCTAAGGGTTAA | TGTCAGATGCTCTGATGA | E |
| COQ6-Exon 3 | AACAGGATGGAGGGACAA | ACAGAACACTTGGAGAAA | E |
| COQ6-Exon 4 | GCAATATTGTTTCTGATT | GACACTGAATATTGTAAA | E |
| COQ6-Exon 5 | GACACTGAATATTGTAAA | CCAAAAGTTTTGCCTAAA | E |
| COQ6-Exon 6/7 | GAGCTGGAGGAAACTTTA | TTCCCTTGCAACCAGAAA | E |
| COQ6-Exon 8 | TGCCCAGGCTGTTTGTAA | AACAACACCTTTCTGTAT | E |
| COQ6-Exon 9/10 | CTAAGCTTTGGTTACAAA | GCCAGATATATTTTATGT | E |
| COQ6-Exon 11 | CAAGAGGGAGTGGACATA | AAGACCAAGACTCTGTTT | E |
| COQ6-Exon 12 | AATACCTACGTGATTATT | TTTGGTCTGGCTAATATA | E |
| COQ7-Exon 1 | CCGAGTGATTGACAGTGACC | AAACCTCAAGCGAAAATTCC | A |
| COQ7-Exon 2 | CTGATTTGTGACCTCCATCC | CATCTCCACCAAGAACCAAC | A |
| COQ7-Exon 3 | TGTTTCCATTGACGTTTTGA | GGACACAGCAAGAATTGTGA | A |
| COQ7-Exon 4 | CCCTGTCACAAAGAATGACC | GCACTGACCTGAGCCTCTAA | A |
| COQ7-Exon 5 | GCCCTTTAGAGGAAAAGCTG | GAGCAATAATGCGTTTGCTT | A |
| COQ7-Exon 6 | TTCCGACCTTTTGAATAGCTT | AGGCCCTGTCTCCAAAAA | A |
| CABC1-Exon 1 | GGGGAAAAGGAGAACAGGAG | GCGCTGTCACATGAAGAGAA | B |
| CABC1-Exon 2 | CCTGGGCCCTTTCTTATCTC | AGGACCGTGGGACACATTAG | A |
| CABC1-Exon 3 | GCTCGCTCTTGCTCTCCTAA | TCTCTGGGGTTTGCAAAGAG | A |
| CABC1-Exon 4 | TCTTTGCAAACCCCAGAGAC | CTCCCCAAAAGCTCATGC | F |
| CABC1-Exon 5 | CCTTGTTCCCCACTTTTCAA | GACACTCCCAGAGCACAGGT | F |
| CABC1-Exon 6 | GAGCCTCCGTCTGTATCAGG | CATCTTGCCCACTGAGGTTT | A |
| CABC1-Exon 7/8 | GTCATTCTGCCTTCCAG | GTGTAGAGGCCTCCATGAGC | A |
| CABC1-Exon 9/10 | CTCTGGTTCTCCAGGGTGTG | GCTGAACATGGTCCCTTCTG | A |
| CABC11-Exon 11 | ATATCCTGCCTGGGGTGAAG | TAGGTCACCAAACAGCCACA | A |
| CABC1-Exon 12/13 | CCCTAGGGTAGGGTGGGTAA | CTGCTGTCACCAGACCTGAG | A |
| CABC1-Exon 14 | GTTTTTCTGAGGCTGGGACA | CCCTGTGCTTTCATCCATTC | B |
| CABC1-Exon 15 | CCCCTGTGGGTTTGAGTTTA | CTGCTGTCACCAGACCTGAG | A |
| COQ9-Exon 1 | AATGAGAGGATGTGGGAACG | GTGGACTTGGCAATGGACTT | F |
| COQ9-Exon 2 | GGGACCCAACACTTGGATAA | AAAAGGGGATGGAGAGGAGA | E |
| COQ9-Exon 3 | TTCTGGTCATGCCCATTGTA | GGGCTCTGAGCTAGACTGGA | A |
| COQ9-Exon 4 | TGGTGGTCAGTTTCACCAAA | ATAGCTGGTAGGGCCCAAGT | A |
| COQ9-Exon 5 | TCCTCCCTAGGGCTGAGTAA | CCAAGTTTGAAACCCAGCTT | F |
| COQ9-Exon 6 | CCCCTCATACACCTCTTGGA | TGACGGACCTTCCTCATACC | A |
| COQ9-Exon 7 | CTTGGGTAGGAACTGCCTCA | GCAAAGTGTGGCTCTTAGGG | F |
| COQ9-Exon 8 | TCACCTTTTGGGGCTCATAG | TGTTTCCAGGTTAGGGCTACA | A |
| COQ9-Exon 9 | AGGCAAGGTAAGCCCTCACT | TGTGCTGGAGATGAGCTGTC | A |
| COQ10A-Exon 1 | TCGCCACAGGTGTGAAACTA | CCAGTATAGCACCCCTCCAC | G |
| COQ10A-Exon 2 | GGTTGGCTCCTCTTTCCTTT | TGGCTAGGGATGAATCTTGC | H |
| COQ10A-Exon 3/4 | CCTGAAGGTGCGTGGTTAGT | GTGACGGAGCAAGACTCCA | H |
| COQ10A-Exon 5 | CCAAGTTAGGGCTCTTACGG | TTTCCACATCCTTTGCCTTC | H |
| COQ10B-Exon 1 | GGGAACGTTTACGGTCAGC | ACGGAAATGCACCGAGTC | H |
| COQ10B-Exon 2 | TGCAAAGCCTTACAAAGTGG | AGAGGCACAACACGATACCC | H |
| COQ10B-Exon 3 | TGCTTTGAGGTCATTGATTCC | TTTTTACCCTCCTCCTGTTAGG | H |
| COQ10B-Exon 4 | TGAAAGAAATCAGCCTCAGTCA | GGAATATTCAAGGTTGCAAGAA | H |
| COQ10B-Exon 5 | CCAACCTGGGCAACAAAG | GCAAATTTTCAATGGTGCAG | H |
| ADCK2-Exon 1A | CAGTTGGTGCCGTCTGACA | TTCGCCGACTCAGAACGTC | F |
| ADCK2-Exon 1B | ACTTTGCCCAAGGTGGTCT | CCCAGTTTGATGTAGGTTGG | F |
| ADCK2-Exon 1C | TTCCCCCTCCTACTCCTCTA | ACTGCCCCAGTATGTGAGAA | A |
| ADCK2-Exon 1D | CTGACAGCGTCCAGAGACTT | GCCACTTCAAGCCAATAAAAT | A |
| ADCK2-Exon 2 | CGGGACCACATCCTCTTTT | GCCACTGAGATTTGGATGTTC | A |
| ADCK2-Exon 3 | CTCCTGAGTTTCTGGGCAAG | TCCCAGCTCCTCACAGTTTT | A |
| ADCK2-Exon 4 | GATGGGTTCTAGGAAAGGAAA | CATGGCCATTTATGGTAGCC | A |
| ADCK2-Exon 5 | TTTGCGGCTGTGATAGAGTG | ACCATGCTTCACCAGCTCTT | A |
| ADCK2-Exon 6 | GCCAAGGTTAAGCACTGAGG | CTTGAGCACAACGGACTTCA | A |
| ADCK2-Exon 7 | ATGGTCCCTTTTGTGCTGAC | GAATCACTGGAAGCCAGGAA | A |
| ADCK2-Exon 8 | TGAGAGTGGACAGCAAGGTG | CAGGGAGTATAGCGGGTCAA | A |
Note.— All PCR reaction mixtures contained 1× PCR Buffer (Roche), 200 mM dNTPs, 400 pM forward primer, 400 pM reverse primer, 2.5 U Taq polymerase, and 100 ng DNA. PDSS1 was amplified and sequenced as described by Rotig et al.9
a
A = PCR cycles were 5 min at 94°C; 35 cycles of 30 s at 94°C, 30 s at 57°C, and 1 min at 72°C; and 7 min at 72°C. B = Touchdown PCR cycles were 5 min at 94°C; 10 cycles of 30 s at 94°C, 30 s at 65°C–55°C (−1°C per cycle), and 1 min at 72°C; 25 cycles of 30 s at 94°C, 30 s at 55°C, and 1 min at 72°C; and a final cycle of 7 min at 72°C. C = PCR cycles were 5 min at 94°C; 35 cycles of 30 s at 94°C, 30 s at 45°C, and 1 min at 72°C; and 7 min at 72°C. D = PCR cycles were 5 min at 94°C; 35 cycles of 30 s at 94°C, 30 s at 50°C, and 1 min at 72°C; and 7 min at 72°C. E = PCR cycles were according to touchdown PCR. F = PCR cycles were 5 min at 94°C; 35 cycles of 30 s at 94°C, 30 s at 57°C, and 1 min at 72°C; and 7 min at 72°C. G = PCR cycles were: 5 min at 94°C; 35 cycles of 30 s at 94°C, 30 s at 55°C, and 1 min at 72°C; and 7 min at 72°C. H = PCR cycles were: 5 min at 94°C; 35 cycles of 30 s at 94°C, 30 s at 59°C, and 1 min at 72°C; and 7 min at 72°C.