Table 2.
SNV panels used for interrogating the 23 most common pathogenic mtDNA SNV alleles using multiplex extension primers.
| Peak number | Mutation | As tested | Disease | Sequence (5′-3′) | Strand | Length w/tail |
|---|---|---|---|---|---|---|
| Panel MD1 | ||||||
| 1 | m.3460G>A | LHON | CTACAACCCTTCGCTGAC | F | 18 | |
| 2 | m.3271T>C | A>G | MELAS | TAAGAAGAGGAATTGAACCTCTGACTGTAA | R | 30 |
| 3 | m.8356T>C | MERRF | (T)10AAAGATTAAGAGAACCAACACCTCT | F | 35 | |
| 4 | m.l555A>G | DEAF | (T)4CTAAAACCCCTACGCATTTATATAGAGGAG | F | 34 | |
| 5 | m.8344A>G | MERRF | GTAAAGCTAACTTAGCATTAACCTTTTAAGTrAAAGATTAAGAGA | F | 45 | |
| 6 | m.H778G>A | LHON | (T)35CTACGAACGCACTCACAGTC | F | 55 | |
| 7 | m.7445A>G, C Panel MD2 | T>C, G | DEAF | (T)47GGGTTCGATTCCTTCCTTTrTrG | R | 70 |
| 1 | m.l4459G>A | LHON | CTCAGGATACTCCTCAATAGCCATC | F | 25 | |
| 2 | m.14484T>C | LHON | CGCTGTAGTATATCCAAAGACAACCA | F | 26 | |
| 3 | m.3243A>G, T | T>C | MELAS/MM/CPEO | GTTTTATGCGATTACCGGGC | R | 20 |
| 4 | m.8993T>G, C | NARP | (T)9AGCCTACTCATTCAACCAATAGCCC | F | 34 | |
| 5 | m.l4487T>C | A>G | LS | AGGTTATATGGGTTTAATAGTTrTrTrAATrTATTrAGGGGGA | R | 43 |
| 6 | m.l0191T>C Panel LD1 | LS | (T)43GCGGCTTCGACCCTATA | F | 60 | |
| 1 | m.3460G>A | LHON | CTACAACCCTTCGCTGAC | F | 18 | |
| 2 | m.3733G>A | C>T | LHON | GAATGATGGCTAGGGTGACTT | R | 21 |
| 3 | m.l4568C>T | G>A | LHON | GGGGGTTTAGTATTGATTGTTAGC | R | 24 |
| 4 | m.l0663T>C | LHON | CAATATTGTGCCTATTGCCATACTAG | F | 26 | |
| 5 | m.l4482C>G, A | LHON | (T)10CGCTGTAGTATATCCAAAGACAAC | F | 34 | |
| 6 | m.l4495A>G | T>C | LHON | GGGGAGGTTATATGGGTTTAATAGTTTTTTTAATTTATT | R | 39 |
| 7 | m.H778G>A Panel LD2 | LHON | (T)35CTACGAACGCACTCACAGTC | F | 55 | |
| 1 | m.l3708G>A | Haplotype | CTAAACCCCATTAAACGCCTG | F | 21 | |
| 2 | m.4917A>G | Haplotype | ATCATATACCAAATCTCTCCCTCACTA | F | 27 | |
| 3 | m.14484T>C | LHON | CGCTGTAGTATATCCAAAGACAACCA | F | 26 | |
| 4 | m.4216T>C | Haplotype | CCACTCACCCTAGCATTACTTATATGA | F | 27 | |
| 5 | m.4171C>A | LHON | (T)14ACGACCAACTCATACACCTC | F | 34 | |
| m.l4459G>A | LHON | TTTTCTCAGGATACTCCTCAATAGCCATC | F | 29 |
All polymorphisms are listed using the forward strand SNV. The ‘As tested’ column indicates which nucleotides are detected during the assay. MD, mitochondrial disease; LD, LHON disease; ‘Length with tail’ includes annealing length plus poly(T) tail.
MD1: la-3460 (WT); lb-3460 (LHON); 2-3271 (MELAS); 3-8356 (MERRF); 4-1555 (DEAF) 5-8344 (MERFF); 6-11778 (LHON); 7-7445 (DEAF/SNHL). MD2: 1-14459 (LHON); 2-14484 (LHON); 3-3243 (MELAS/MM/CPEO); 4a-8993 (WT); 4b-8993 (LS-NARP 4c-8993 (NARP); 5-14487 (LS); 6-10191 (LS). LD1: (all LHON) la-3460 (WT); lb-3460 (LHON) 2-3733 (LHON) 3-14568 4-10663; 5-14482; 6-14459 7-14495; 8-11778. LD2: 1-13708 (J) 2-4917 (T); 3a-14484 (WT); 3b-14484 (LHON); 4-4216 (JT); 5-4171 (LHON).