Nucleotide sequence changes of mtDNA control region from aggregate cells
Donor no. and polymorphism . | Affected mtDNA gene . |
|---|---|
| BM donor 1 | |
| 73A>G | HV2, 7S |
| 150C>T | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 16192C>T | HV1, 7S |
| 16270C>T | HV1, 7S |
| BM donor 2 | |
| 73A>G | HV2, 7S |
| 185G>A | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| A478G† | — |
| 16093T>C | HV1 |
| 16158A>T | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16183A>C | HV1, 7S |
| 16189T>C (12C)* | HV1, 7S |
| 16219A>G | HV1, 7S |
| 16278C>T | HV1, 7S |
| BM donor 3 | |
| 73A>G | HV2, 7S |
| 146T>C | HV2, 7S, OH |
| 152T>C | HV2, 7S, OH |
| 195T>C | HV2, OH |
| 263A>G | HV2, OH |
| 8CT6C*, 9CT6C* | HV2, OH, CSB2 |
| 514-515delCA | — |
| 16223C>T | HV1, 7S |
| 16278C>T | HV1, 7S |
| 16294C>T | HV1, 7S |
| 16390G>G | 7S |
| BM donor 4 | |
| 93A>G | HV2, 7S |
| 95A>C | HV2, 7S |
| 185G>A | HV2, 7S, OH |
| 189A>G | HV2, 7S, OH |
| 236T>C | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 247G>A | HV2, OH, TFB1 |
| 263A>G | HV2, OH |
| 514-515delCA | — |
| 16093T>C | HV1 |
| 16129G>A | HV1, 7S |
| 16148C>T | HV1, 7S |
| 16168C>T | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16187C>T* | HV1, 7S |
| 16188C>G* | HV1, 7S |
| 16189T>C* | HV1, 7S |
| 16223C>T | HV1, 7S |
| 16230A>G | HV1, 7S |
| 16278C>T | HV1, 7S |
| 16293A>G | HV1, 7S |
| 16311T>C | HV1, 7S |
| 16320C>T | HV1, 7S |
| BM donor 5 | |
| 73A>G | HV2, 7S |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 514-515delCA | — |
| 16126T>C | HV1, 7S |
| 16294C>T | HV1, 7S |
| 16296C>T | HV1, 7S |
| 16519T>C | 7S |
| BM donor 6 | |
| 73A>G | HV2, 7S |
| 150C>T | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 517A>G† | — |
| 16270C>T | HV1, 7S |
| 16292C>T | HV1, 7S |
| 16362T>C | HV1, 7S |
| CB donor 1 | |
| 73A>G | HV2, 7S |
| 146T>C | HV2, 7S, OH |
| 195T>A | HV2, OH |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 489T>C | — |
| 514-515delCA | — |
| 16166A>T | — |
| 16169delC† | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16223C>T | HV1, 7S |
| 16354C>T | HV1, CSB3 |
| 16519T>C | 7S |
| CB donor 2 | |
| 72T>C | HV2, 7S |
| 253C>T | HV2, OH, TFB1 |
| 263A>G | HV2, OH |
| 9CT6C* | HV2, OH, CSB2 |
| 10CT6C* | HV2, OH, CSB2 |
| 8CT6C* | HV2, OH, CSB2 |
| 16256C>T | HV1, 7S |
| 16298T>C | HV1, 7S |
| 16519T>C | 7S |
| CB donor 3 | |
| 73A>G | HV2, 7S |
| 146T>C | HV2, 7S, OH |
| 189A>G | HV2, 7S, OH |
| 194C>T | HV2, OH |
| 195T>C | HV2, OH |
| 204T>C | HV2, OH |
| 207G>A | HV2, OH |
| 263A>G | HV2, OH |
| 279T>C | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 9CT6C* | HV2, OH, CSB2 |
| 16223C>T | HV1, 7S |
| 16292C>T | HV1, 7S |
| 16519T>C | 7S |
| CB donor 4 | |
| 73A>G | HV2, 7S |
| 249delA | HV2, OH, TFB1 |
| 290-291delAA | HV2, OH, TFB2 |
| 7CT6C* | HV2, OH, CSB2 |
| 489T>C | — |
| 493A>G | — |
| 514-515delCA | — |
| 16223C>T | HV1, 7S |
| 16298T>C | HV1, 7S |
| 16325T>C | HV1, 7S |
| 16327C>T | HV1, 7S |
| 16519T>C | 7S |
| CB donor 5 | |
| 73A>G | HV2, 7S |
| 150C>T | HV2, 7S, OH |
| 195T>C | HV2, OH |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 16171A>G | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16189T>C* | HV1, 7S |
| 16193C>C/CC* | HV1, 7S |
| 16223C>T | HV1, 7S |
| 16320C>T | HV1, 7S |
| 16519T>C | 7S |
Donor no. and polymorphism . | Affected mtDNA gene . |
|---|---|
| BM donor 1 | |
| 73A>G | HV2, 7S |
| 150C>T | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 16192C>T | HV1, 7S |
| 16270C>T | HV1, 7S |
| BM donor 2 | |
| 73A>G | HV2, 7S |
| 185G>A | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| A478G† | — |
| 16093T>C | HV1 |
| 16158A>T | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16183A>C | HV1, 7S |
| 16189T>C (12C)* | HV1, 7S |
| 16219A>G | HV1, 7S |
| 16278C>T | HV1, 7S |
| BM donor 3 | |
| 73A>G | HV2, 7S |
| 146T>C | HV2, 7S, OH |
| 152T>C | HV2, 7S, OH |
| 195T>C | HV2, OH |
| 263A>G | HV2, OH |
| 8CT6C*, 9CT6C* | HV2, OH, CSB2 |
| 514-515delCA | — |
| 16223C>T | HV1, 7S |
| 16278C>T | HV1, 7S |
| 16294C>T | HV1, 7S |
| 16390G>G | 7S |
| BM donor 4 | |
| 93A>G | HV2, 7S |
| 95A>C | HV2, 7S |
| 185G>A | HV2, 7S, OH |
| 189A>G | HV2, 7S, OH |
| 236T>C | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 247G>A | HV2, OH, TFB1 |
| 263A>G | HV2, OH |
| 514-515delCA | — |
| 16093T>C | HV1 |
| 16129G>A | HV1, 7S |
| 16148C>T | HV1, 7S |
| 16168C>T | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16187C>T* | HV1, 7S |
| 16188C>G* | HV1, 7S |
| 16189T>C* | HV1, 7S |
| 16223C>T | HV1, 7S |
| 16230A>G | HV1, 7S |
| 16278C>T | HV1, 7S |
| 16293A>G | HV1, 7S |
| 16311T>C | HV1, 7S |
| 16320C>T | HV1, 7S |
| BM donor 5 | |
| 73A>G | HV2, 7S |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 514-515delCA | — |
| 16126T>C | HV1, 7S |
| 16294C>T | HV1, 7S |
| 16296C>T | HV1, 7S |
| 16519T>C | 7S |
| BM donor 6 | |
| 73A>G | HV2, 7S |
| 150C>T | HV2, 7S, OH |
| 263A>G | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 517A>G† | — |
| 16270C>T | HV1, 7S |
| 16292C>T | HV1, 7S |
| 16362T>C | HV1, 7S |
| CB donor 1 | |
| 73A>G | HV2, 7S |
| 146T>C | HV2, 7S, OH |
| 195T>A | HV2, OH |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 489T>C | — |
| 514-515delCA | — |
| 16166A>T | — |
| 16169delC† | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16223C>T | HV1, 7S |
| 16354C>T | HV1, CSB3 |
| 16519T>C | 7S |
| CB donor 2 | |
| 72T>C | HV2, 7S |
| 253C>T | HV2, OH, TFB1 |
| 263A>G | HV2, OH |
| 9CT6C* | HV2, OH, CSB2 |
| 10CT6C* | HV2, OH, CSB2 |
| 8CT6C* | HV2, OH, CSB2 |
| 16256C>T | HV1, 7S |
| 16298T>C | HV1, 7S |
| 16519T>C | 7S |
| CB donor 3 | |
| 73A>G | HV2, 7S |
| 146T>C | HV2, 7S, OH |
| 189A>G | HV2, 7S, OH |
| 194C>T | HV2, OH |
| 195T>C | HV2, OH |
| 204T>C | HV2, OH |
| 207G>A | HV2, OH |
| 263A>G | HV2, OH |
| 279T>C | HV2, OH |
| 8CT6C* | HV2, OH, CSB2 |
| 9CT6C* | HV2, OH, CSB2 |
| 16223C>T | HV1, 7S |
| 16292C>T | HV1, 7S |
| 16519T>C | 7S |
| CB donor 4 | |
| 73A>G | HV2, 7S |
| 249delA | HV2, OH, TFB1 |
| 290-291delAA | HV2, OH, TFB2 |
| 7CT6C* | HV2, OH, CSB2 |
| 489T>C | — |
| 493A>G | — |
| 514-515delCA | — |
| 16223C>T | HV1, 7S |
| 16298T>C | HV1, 7S |
| 16325T>C | HV1, 7S |
| 16327C>T | HV1, 7S |
| 16519T>C | 7S |
| CB donor 5 | |
| 73A>G | HV2, 7S |
| 150C>T | HV2, 7S, OH |
| 195T>C | HV2, OH |
| 263A>G | HV2, OH |
| 7CT6C* | HV2, OH, CSB2 |
| 16171A>G | HV1, 7S, TAS |
| 16172T>C | HV1, 7S, TAS |
| 16189T>C* | HV1, 7S |
| 16193C>C/CC* | HV1, 7S |
| 16223C>T | HV1, 7S |
| 16320C>T | HV1, 7S |
| 16519T>C | 7S |
HV1 indicates hypervariable segment 1; HV2, hypervariable segment 2; 7S, 7S DNA; OH, H-strand origin; CSB2, conserved sequence block II; TAS, termination-associated sequence; TFB1, mitochondrial transcription factor 1 binding site; and —, not applicable.
Homopolymeric C tracts at nucleotides position at 303 to 315 (for example, 8CT6C defined CCCCCCCCTCCCCCC) and 16184 to 16193 in HV2 and HV1, respectively.
New mtDNA polymorphisms (not listed in accepted database).