Table 1.
mtDNA diversity in nine Siberian populations
| Haplogroup | RFLPs | HVS-I (−16000) | Populations and number of subjectsa
|
Total | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TB | TV | BR | TF | EV | NG | UL | NV | UD | ||||
| A1 | +663e | 192 223 290 319 362 | 8 | 8 | ||||||||
| +663e | 242 290 293 319 | 1 | 1 | |||||||||
| +663e | 086 223 290 293 319 362 | 1 | 1 | |||||||||
| +663e +15606a | 039 189 223 290 319 356 362 | 1 | 1 | |||||||||
| +663e +15606a | 039 189 218 223 290 319 356 362 | 1 | 1 | |||||||||
| +663e −9751l/+15606a | 039 189 223 290 319 356 362 | 1 | 1 | |||||||||
| +663e −9751l/+15606a −15883e | 039 189 223 290 319 356 362 | 1 | 1 | |||||||||
| B1 | 9bp del −6022a | 086 136 189 217 519 | 1 | 1 | ||||||||
| 9bp del −6022a −9052n/+9612k | 086 136 189 217 519 | 2 | 1 | 3 | ||||||||
| B3 | 9bp del +13940f | 189 217 240 519 | 1 | 1 | ||||||||
| B4 | 9bp del | 167 189 217 261 317T 519 | 4 | 2 | 6 | |||||||
| 9bp del −14766u | 129 189 217 261 356 | 1 | 1 | |||||||||
| B5 | 9bp del (+/−) | 140 189 243 519 | 1 | 1 | ||||||||
| 9bp del (+/−) +14465s | 140 148 189 218 266 243 519 | 1 | 1 | |||||||||
| 9bp del (+/−) +4895k (+/−) −10971g +15221j −15925l | 111 129 140 189 234 243 244 463 519 | 4 | 4 | |||||||||
| F | +4732k −12406h/−12629b | 189 232A 249 304 311 519 | 1 | 1 | 1 | 3 | ||||||
| +4732k −12406h/−12629b | 172 189 232A 249 286 304 311 | 3 | 3 | |||||||||
| +4732k −8391e −12406h/−12629b | 172 189 232A 249 286 304 311 | 1 | 1 | |||||||||
| −12406h/ | 189 304 327 519 | 3 | 3 | |||||||||
| +545g −9052n/−12406h/−13268g | 162 172 304 519 | 1 | 1 | |||||||||
| Y | +7933j −8391e (+/−) | 126 231 266 304 519 | 1 | 1 | 2 | |||||||
| +7933j −8391e (+/−) −13608l | 126 231 266 304 519 | 1 | 1 | |||||||||
| −7641a +7933j −8391e (+/−) | 126 231 266 304 380 519 | 1 | 1 | |||||||||
| +7933j −8391e (+/−) | 126 189 231 519 | 11 | 11 | |||||||||
| +7933j −8391e (+/−) | 126 189 231 266 519 | 5 | 18 | 10 | 2 | 35 | ||||||
| +7933j −8391e (+/−) | 126 189 266 519 | 1 | 1 | |||||||||
| +7933j −8391e (+/−) | 126 189 231 292 519 | 3 | 3 | |||||||||
| +7933j −8391e (+/−) | 126 189 266 292 519 | 1 | 1 | |||||||||
| +7933j −8391e (+/−) | 126 189 231 266 292 519 | 2 | 2 | |||||||||
| +7933j −8391e (+/−) | 126 189 231 266 294 519 | 1 | 1 | 2 | ||||||||
| +7933j −8391e (+/−) | 126 140 189 231 266 399 519 | 1 | 1 | |||||||||
| −322e +7933j −8391e (+/−) | 126 189 231 266 519 | 5 | 5 | |||||||||
| −322e +7933j −8391e (+/−) | 093h 126 189 231 266 519 | 1 | 1 | |||||||||
| −322e +7933j −8391e (+/−) | 126 189 231 266 294 519 | 1 | 1 | |||||||||
| −322e +7933j −8391e (+/−) | 126 189 266 519 | 1 | 1 | |||||||||
| +7933j −8391e (+/−) 4bp ins | 126 189 231 519 | 4 | 4 | |||||||||
| +7933j −8391e (+/−) +11900k | 126 189 266 292 519 | 1 | 1 | |||||||||
| +7933j −8391e (+/−) +11900k | 126 189 231 266 292 519 | 4 | 4 | |||||||||
| +7933j −8391e (+/−) +14168l | 126 189 231 266 519 | 2 | 1 | 3 | ||||||||
| −853c/+7933j −8391e (+/−) −15375g | 126 189 231 519 | 1 | 1 | |||||||||
| H | −7025a −14766u | 519 | 1 | 1 | ||||||||
| −7025a −14766u | 288 362 | 3 | 3 | |||||||||
| −7025a −14766u | 311 519 | 3 | 3 | |||||||||
| −7025a −9380f −14766u | 362 519 | 1 | 1 | |||||||||
| −7025a −7598f +14249f −14766u | 093 129 316 519 | 1 | 1 | |||||||||
| V | −4577q −14766u +15904u | 153 298 | 1 | 1 | ||||||||
| J | +4216q (+/−) −13704t | 069 126 519 | 1 | 1 | ||||||||
| +4216q (+/−) −13704t | 069 126 145 172 261 278 | 1 | 1 | |||||||||
| +4216q −4685a (+/−) +11001n/ | ||||||||||||
| +11414a −13704t−15254s | 069 126 241 | 1 | 1 | |||||||||
| U4 | +4643k +11329a +12308g | 356 519 | 10 | 1 | 11 | |||||||
| +4643k +11329a +12308g | 311 356 519 | 3 | 3 | |||||||||
| U5 | +12308g | 189 260 270 519 | 2 | 2 | ||||||||
| +12308g | 192 241 256 270 287 304 325 399 | 4 | 4 | |||||||||
| +1718a +12308g +13634s | 093 234 270 | 3 | 3 | |||||||||
| U* | +12308g | 129C 189 214 258 362 519 | 2 | 2 | ||||||||
| W | +8249b/−8994e (12705) | 104 223 284 519 | 2 | 2 | ||||||||
| X | (−/−) +14465s (12705) | 189 223 278 519 | 1 | 1 | ||||||||
| N9 | (5417) (12705) | 111 129 223 257A 261 | 3 | 3 | ||||||||
| (5417) (12705) | 223 248 257A 261 311 519 | 5 | 5 | |||||||||
| (5417) −5742i (12705) | 189 223 | 2 | 2 | |||||||||
| (5417) −5742i (12705) | 129 189 223 311 | 1 | 1 | |||||||||
| (5417) (12705) −14258m/ | 223 519 | 3 | 14 | 17 | ||||||||
| R6 | (−/−) −12282a | 129 184i 190i 362 390 519 | 1 | 1 | ||||||||
| R* | (−/−) | 145 192 243 309 390 519 527 | 1 | 1 | ||||||||
| C1a | −7598f (+/+) −13259o/ | 223 298 325 327 356 | 1 | 1 | ||||||||
| C2 | (+/+) −13259o/ | 223 298 327 519 | 8 | 1 | 9 | |||||||
| −5983g/(+/+) −13259o/ | 223 298 327 519 | 2 | 2 | |||||||||
| (+/+) −13259o/+15606a | 223 298 327 519 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 129 223 298 327 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 223 264 298 327 519 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 223 298 311 327 519 | 2 | 2 | 3 | 5 | 12 | ||||||
| (+/+) −13259o/ | 219 223 298 327 519 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 223 294 298 311 327 519 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 223 291 298 327 519 | 1 | 2 | 3 | ||||||||
| (+/+) −13259o/ | 223 261 298 519 | 1 | 1 | |||||||||
| (+/+)−12170g/−13259o/ | 223 249 291 295 298 327 519 | 2 | 2 | |||||||||
| +8249b/(+/+) −13259o/ | 223 298 327 519 | 10 | 5 | 5 | 20 | |||||||
| +8249b/(+/+) −13259o/ | 093 223 298 327 519 | 1 | 1 | |||||||||
| +8249b/(+/+) −13259o/ | 093 129 223 298 327 519 | 1 | 1 | |||||||||
| +8249b/(+/+) −13259o/ | 190 223 232 298 327 519 | 1 | 1 | |||||||||
| +8249b/(+/+) −13259o/ | 223 259+A 298 327 519 | 2 | 2 | |||||||||
| +8249b/(+/+) −13259o/ | 223 262+C 291 298 327 519 | 2 | 2 | |||||||||
| −1715c (+/+) −13259o/ | 150 223 298 327 519 | 1 | 1 | |||||||||
| −1715c (+/+) −13259o/ | 129 150 223 298 327 519 | 1 | 1 | 1 | 3 | |||||||
| −1715c (+/+) −13259o/ | 093 129 223 298 327 519 | 1 | 1 | 2 | ||||||||
| −1715c (+/+) −13259o/ | 129 223 298 327 519 | 1 | 2 | 1 | 1 | 1 | 6 | |||||
| −1715c (+/+) −13259o/+15606a | 093 129 223 298 327 519 | 8 | 3 | 7 | 1 | 19 | ||||||
| −1715c (+/+) −13259o/+15606a | 093 129 223 235 298 327 390 519 | 10 | 10 | |||||||||
| −1715c −6850i (+/+) −13259o/+15606a | 093 129 223 298 327 519 | 1 | 1 | |||||||||
| −1715c (+/+) −13259o/+15606a | 129 223 298 327 519 | 4 | 4 | |||||||||
| −1715c −6850i (+/+) −13259o/+15606a | 129 223 298 327 519 | 2 | 2 | |||||||||
| −1004o −1715c (+/+) −13259o/ | 129 223 298 327 519 | 2 | 4 | |||||||||
| (+/+) −13259o/ | 223 298 327 344 357 519 | 1 | 2 | 2 | 5 | |||||||
| (+/+) −13259o/ | 171 223 327 344 357 519 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 171 223 298 327 344 357 519 | 1 | 2 | 3 | 6 | |||||||
| (+/+) −13259o/ | 171 223 224 298 327 344 357 519 | 2 | 2 | 4 | ||||||||
| (+/+) −13259o/ | 171 209 223 298 327 344 357 519 | 1 | 1 | |||||||||
| −1715c (+/+) −13259o/ | 093 129 167 223 298 327 357 519 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 171 188 223 261 298 327 344 357 519 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 167 223 298 327 344 357 519 | 1 | 1 | |||||||||
| −5983g/(+/+) −13259o/ | 171 223 298 327 344 357 519 | 2 | 2 | 4 | ||||||||
| (+/+) −13259o/ | 093 171 223 298 327 344 357 519 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 129 140 171 223 298 327 344 357 519 | 1 | 1 | |||||||||
| C3 | −1413l +8249b/(+/+) −13259o/ | 093 223 288 298 327 390 519 | 1 | 1 | ||||||||
| −1413l (+/+) −13259o/ | 093 223 288 298 327 390 519 | 7 | 7 | |||||||||
| (+/+) −13259o/ | 223 261 288 298 519 | 3 | 5 | 8 | ||||||||
| (+/+) −13259o/ | 223 288 298 327 390 519 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 093 223 288 298 327 390 519 | 1 | 1 | |||||||||
| (+/+) −13259o/(3460) | 093 223 288 298 327 390 519 | 1 | 1 | |||||||||
| (+/+) −13259o/ | 093 223 288 291 298 327 518T 519 | 2 | 2 | |||||||||
| (+/+) −13259o/ | 093 223 288 298 327 390 500A 519 | 1 | 1 | |||||||||
| −1715c +3397k (+/+) −13259o/9bp ins | 148 223 288 298 327 519 | 1 | 3 | 4 | ||||||||
| −1715c (+/+) −13259o/9bp ins | 148 223 288 298 327 519 | 1 | 2 | 3 | ||||||||
| +1718e −7297e (+/+) −13259o/ | 148 164 223 288 298 327 519 | 2 | 2 | |||||||||
| D | −5176a (+/+) | 223 362 | 6 | 1 | 7 | |||||||
| −5176a (+/+) | 223 291 362 | 1 | 3 | 4 | ||||||||
| −5176a (+/+) | 223 362 368 | 1 | 1 | |||||||||
| −5176a (+/+) | 174 223 362 | 4 | 4 | |||||||||
| −5176a (+/+) | 223 362 519 | 2 | 2 | |||||||||
| −5176a (+/+) | 189 223 362 519 | 1 | 1 | |||||||||
| −5176a (+/+) | 223 263 362 519 | 4 | 4 | |||||||||
| −5176a (+/+) | 145 311 362 368 | 1 | 1 | |||||||||
| −5176a (+/+) | 223 274 362 368 | 2 | 1 | 3 | ||||||||
| −5176a (+/+) | 223 245 311 362 368 | 2 | 2 | |||||||||
| −5176a (+/+) | 093 223 232 290 362 | 1 | 1 | |||||||||
| −5176a (+/+) | 148 223 263 362 519 | 1 | 1 | 2 | ||||||||
| −5176a −5971f (+/+) | 223 362 | 1 | 1 | |||||||||
| +1973g −5176a (+/+) | 223 286 362 | 1 | 1 | |||||||||
| −5176a (+/+) +14583c | 223 245 362 | 1 | 1 | |||||||||
| −5176a −8074a (+/+) | 223 286 362 | 1 | 1 | |||||||||
| −5176a −9294e (+/+) | 223 362 519 | 1 | 1 | |||||||||
| −5176a (+/+) +14465s (14470) | 223 362 519 | 1 | 1 | |||||||||
| −5176a −7859j (+/+) | 223 263 362 519 | 2 | 2 | |||||||||
| −5176a (+/+) +10407k | 129 223 362 519 | 2 | 2 | |||||||||
| −5176a +7979e (+/+) | 184 223 311 362 | 1 | 1 | |||||||||
| −1715c −5176a (+/+) | 042 223 362 | 1 | 1 | |||||||||
| −1715c −5176a (+/+) | 042 214 223 362 | 1 | 10 | 11 | ||||||||
| −1715c −5176a (+/+) | 042 214 223 234 362 | 2 | 2 | |||||||||
| −1715c −5176a +8865j (+/+) | 042 172 223 362 | 1 | 1 | |||||||||
| D1a | −5176a (+/+) | 223 325 362 519 | 4 | 4 | ||||||||
| D3 | −5176a −10180l (+/+) | 223 319 362 | 1 | 1 | ||||||||
| −951j −5176a −10180l (+/+) +15437e | 223 319 362 | 2 | 2 | |||||||||
| −5176a −10180l (+/+) +13717a +14923c +15437e | 223 319 362 | 2 | 2 | |||||||||
| −951j +4133q −5176a −5823a −10180l (+/+) +15437e | 223 239 243 319 362 | 1 | 1 | |||||||||
| −5176a −10180l (+/+) +15437e | 093 172 173 215 223 319 362 519 | 1 | 1 | |||||||||
| D4 | −5176a (+/+) +10646k | 093 223 290 362 | 1 | 1 | ||||||||
| −5176a (+/+) +10646k −14015a | 093 223 232 290 362 | 3 | 3 | |||||||||
| −5176a (+/+) +10646k | 093 223 232 261 294 362 | 2 | 2 | |||||||||
| −5176a (+/+) +10646k | 093 223 232 290 362 | 2 | 2 | 4 | ||||||||
| −5176a +8249b/(+/+) +10646k | 093 223 232 261 290 362 | 2 | 2 | |||||||||
| −5176a (+/+) +10646k | 183 223 274 290 319 362 | 1 | 1 | |||||||||
| −5176a +6915k (+/+) +10646k | 183 223 274 290 319 362 519 | 1 | 1 | |||||||||
| −5176a (+/+) +10646k −13268g | 176 183 223 274 290 319 342 362 519 | 1 | 1 | |||||||||
| D5 | +4877a −5176a (−/−) +12026h/(12705) | 092 172 189 223 266 362 | 1 | 1 | ||||||||
| −5176a (−/−)+12026h/(12705) | 092 126 164 189 223 266 362 | 3 | 3 | |||||||||
| −5176a (−/−) +12026h/−13259o (12705) | 092 164 172 189 223 266 362 | 1 | 1 | |||||||||
| G1 | +4830n/+8198a (+/+) | 017 129 223 519 | 1 | 1 | ||||||||
| +4830n/+8198a (+/+) | 017 093 129 223 519 | 2 | 2 | 1 | 5 | |||||||
| +4830n/+8198a (+/+) | 017 093 129 223 303 519 | 1 | 1 | |||||||||
| +4830n/+8198a (+/+) | 017 051 093 207 223 399 519 | 1 | 1 | |||||||||
| +4830n/+8198a +9253k (+/+) | 017 093 129 223 311 519 | 1 | 1 | |||||||||
| +4830n/+8198a (+/+) +15494c | 017 129 223 519 | 1 | 1 | |||||||||
| +4830n/+8198a (+/+) +15494c | 017 093 129 207 223 519 | 2 | 2 | |||||||||
| +4830n/+8198a (+/+) +15494c | 017 093 207 223 244 399 519 | 1 | 1 | |||||||||
| +4830n/+8198a +8957l (+/+) +15494c | 017 051 093 207 223 399 519 | 1 | 1 | |||||||||
| +4830n/+6629a +8198a (+/+) | 017 129 223 519 | 1 | 1 | |||||||||
| +4830n/+6629a +8198a (+/+) | 017 093 129 223 519 | 5 | 5 | |||||||||
| +4830n/+6629a −7658j +8198a (+/+) | 017 093 129 223 313A 519 | 1 | 1 | |||||||||
| G2 | +4830n/−7598f (7600) (+/+) | 051 150 223 278 362 | 1 | 1 | ||||||||
| +4830n/−7598f (7600) (+/+) +12752a | 093 126 223 227 278 362 | 1 | 1 | |||||||||
| +4830n/−7598f (7600) (+/+) | 223 227 234 278 362 | 1 | 1 | |||||||||
| +4830n/−7598f (7600) (+/+) | 223 227 278 294 362 | 1 | 1 | |||||||||
| +4830n/−7598f (7600) +8249b/(+/+) | 223 227 278 362 519 | 1 | 1 | |||||||||
| +4830n/−7598f (7600) −9438e (+/+) | 220C 223 227 278 362 | 1 | 1 | |||||||||
| +4830n/−7598f (7600) (+/+) | 093 129 223 271 278 362 399 | 1 | 1 | 2 | ||||||||
| G3 | +4830n/(+/+) −12406h | 223 274 362 390 | 1 | 1 | ||||||||
| +4830n/(+/+) −12406h | 093 223 274 362 390 519 | 1 | 1 | |||||||||
| +4830n/(+/+) −12406h | 093 223 274 320 362 390 519 | 1 | 1 | |||||||||
| +4643k +4830n/(+/+) −12406h −15172e | 093 223 274 362 390 519 | 1 | 1 | |||||||||
| +4830n/−8858f (+/+) | 215 223 274 | 1 | 1 | |||||||||
| S | (+/+) +14465s (14470) | 184 223 293 298 319 519 | 1 | 7 | 8 | |||||||
| (+/+) +14465s (14470) | 184 189 223 293 298 319 | 1 | 1 | |||||||||
| (+/+) +14465s (14470) | 184 223 298 319 | 2 | 2 | |||||||||
| (+/+)−13608l +14465s (14470) | 184 223 298 319 | 1 | 1 | |||||||||
| +3744e (+/+) +14465s (14470) −15047e | 086 223 298 319 | 7 | 7 | |||||||||
| Z | (+/+) | 185 223 260 298 360 519 | 1 | 5 | 6 | |||||||
| (+/+) | 129 185 223 224 260 298 519 | 1 | 1 | |||||||||
| −9052n/(+/+) | 185 223 260 298 360 519 | 1 | 1 | |||||||||
| M7 | +9820g (+/+) | 223 245 311 362 368 | 1 | 1 | ||||||||
| +9820g (+/+) | 117 162delA 172 223 519 | 2 | 2 | |||||||||
| −4848e +9820g (+/+) | 173 223 362 519 | 1 | 1 | |||||||||
| +4092e +9820g (+/+) | 140 187 209 223 232 519 | 4 | 4 | |||||||||
| +4092e +9820g (+/+) | 140 187 209 223 519 | 4 | 4 | |||||||||
| −1667c/+4092e +9820g (+/+) | 140 187 209 223 232 519 | 1 | 1 | |||||||||
| +5351f −7853o +9820g (+/+) | 129 152 179 189 223 362 | 1 | 1 | |||||||||
| M9 | +3391e (+/+) | 223 234 316 362 | 4 | 4 | ||||||||
| Total | 72 | 95 | 25 | 46 | 71 | 33 | 87 | 56 | 46 | 531 | ||
Note: RFLP sites are numbered from the first nucleotide of the enzyme recognition sequence. A “+” indicates the presence of the restriction site, a “−” the absence. The restriction enzymes are given using the following single–letter code: a = AluI; b = AvaII; c = DdeI; e = HaeIII; f = HhaI; g = Hinf I; h = HpaI; i = HpaII; j = MboI; k = RsaI; l = TaqI; m = BamHI; n = HaeII; o = HincII; q = NlaIII; r = BfaI; s = AccI; t = BstNI; u = MseI. A slash at the end of the restriction site implies the simultaneous presence/absence of a linked site due to the same nucleotide substitution. The presence/absence of the associated 10394 DdeI/10397 AluI sites is denoted through slash brackets (+/+), or (+/–). 9bp ins = 9bp COII/tRNALys triplication; 9bp del = 9bp COII/tRNALys deletion; 4bp ins = 4bp COII/tRNALys insertion; h = heteroplasmy. Additional mutations in the coding region verified through sequencing are shown in brackets. Founding RFLP/HVS-I haplotypes are shown in boldface. Only those nucleotide positions between 16013 and 16520 that differ from the revised Cambridge Reference Sequence (rCRS) (Andrews et al. 1999) are shown. Mutations are transitions, unless the base change is specified explicitly. The HVS-I mutations recognized also by RFLP analysis are shown only within the HVS–I sequence.
a
Population codes are as follows: TB = Tubalar; TV = Tuvan; BR = Buryat; TF = Tofalar; EV = Evenki; NG = Negidal; UL = Ulchi; NV = Nivkhi; UD = Udegey.