Table 1.
Haplogroup | No. ofSubjectsa | RFLP(s)b | HVS-I (−16000) | HVS-II |
UK: | ||||
U4 | 1 | 4643k 11329a 12308g | 356 519 | 73 195 263 |
4 | 4643k 11329a 12308g | 356 519 | 73 195 215 263 | |
2 | 4643k 11329a 12308g | 311 356 519 | 73 146 152 195 263 | |
1 | 4643k 11329a 12308g | 092 311 356 519 | 73 146 152 195 263 | |
1 | 4643k 11329a 12308g | 113C 356 362 519 | 73 195 263 | |
2 | 4643k −4685a 11329a 12308g | 113C 356 362 519 | 73 195 263 | |
1 | 4643k −4685a 11329a 12308g | 113C 239 356 362 519 | 73 195 263 | |
1 | 4643k −4685a 11329a 12308g | 113C 189 356 362 519 | 73 195 263 | |
1 | 626e 4643k −11326c 11329a 12308g | 189 356 519 | 73 263 | |
2 | 626e 4643k −11326c 11329a 12308g | 189 356 519 | 73 195 263 | |
U5a | 1 | 12308g | 192 256 270 311 | 73 263 |
1 | −3192c 12308g | 129 239 256 270 399 | 73 150 263 | |
U5a1 | 2 | 12308g | 114A 192 256 270 294 | 73 150 263 |
U7 | 4 | 12308g | 309 318T 519 | 73 151 152 263 |
1 | −1715c 12308g | 309 318T 519 | 73 151 152 263 | |
K | 3 | −322e −9052n 9714e 12308g | 224 311 519 | 73 146 152 263 |
JT: | ||||
J1b1 | 2 | 4216q 10394c −13704t | 069 126 145 172 222 261 | 73 242 263 295 |
J2 | 10 | 4216q 10394c −13704t | 069 126 193 301 519 | 73 152 263 295 |
T | 2 | 4216q 4914r 13366m 15606a −15925i | 126 294 296 304 519 | 73 263 |
2 | 4216q 4914r −11824a −13259o 13366m −13704t 15606a −15925i | 126 294 519 | 73 194 200 263 | |
T1 | 1 | 4216q 4914r −12629b 13366m 15606a −15925i | 126 163 186 189 294 519 | 73 152 195 263 |
1 | 4216q 4914r −8838e −12629b 13366m 15606a −15925i | 126 163 186 189 261 294 519 | 73 152 195 263 | |
1 | 4216q 4914r −12629b 13366m −13704t 15606a −15925i | 126 163 186 189 294 519 | 73 152 195 263 | |
HV: | ||||
H* | 1 | −7025a −14766u | 169 184 | 73 263 |
1 | −7025a −14766u | 169 184 | 73 152 263 | |
1 | −7025a −14766u | 169 184 | 125 127 263 | |
2 | −7025a −14766u | 169 184 311 | 73 263 | |
H2 | 1 | 4769a −7025a −14766u | CRS | 204 |
2 | 4769a −7025a −8858f −14766u | CRS | 204 | |
H3 | 1 | −7025a −14766u | 093 172 189 519 | 263 |
1 | −7025a −14766u | 189 356 519 | 263 | |
1 | −7025a −14766u | 189 311 356 519 | 263 | |
1 | −7025a −14766u | 189 356 519 | 73 263 | |
2 |
−7025a 8249b −14766u |
080 189 356 | 263 | |
V | 1 | −4577q −14766u | 298 | 72 263 |
A | 2 | 663e | 039 189 223 290 319 356 362 | 73 152 235 263 |
1 | 663e | 223 227C 230 256 290 311 319 | 64 73 235 263 | |
F | 1 | 4732k −12406h −12629b | 189 232A 249 304 311 519 | 73 204 248d 263 |
C | 5 | 10394c 10397a −13259o | 223 298 327 519 | 73 248d 263 |
1 | 10394c 10397a −13259o | 223 298 311 327 519 | 73 189 207 248d 263 | |
1 | −1715c 10394c 10397a −13259o | 129 223 298 327 519 | 73 195 248d 263 | |
1 | −1715c 10394c 10397a −13259o | 093 129 223 298 327 519 | 73 248d 263 | |
1 | 10394c 10397a −13259o | 086 171 223 298 327 344 357 519 | 73 248d 263 | |
3 | 10394c 10397a −13259o 9bp-ins | 086 171 223 298 327 344 357 519 | 73 248d 263 | |
1 | −1715c 10394c 10397a −13259o | 114A 148 223 288 298 327 519 | 73 248d 263 | |
4 | 10394c 10397a −13259o | 298 327 519 | 73 248d 263 | |
D | 1 | −5176a 10394c 10397a | 223 368 | 125 127 263 |
1 | −5176a 10394c 10397a | 223 362 368 | 125 127 263 | |
1 | −5176a 10394c 10397a | 223 362 368 | 263 | |
2 | −5176a 10394c 10397a | 192 223 261 316 362 | 73 263 | |
1 | −5176a −5823a 10394c 10397a | 223 291 294 362 519 | 73 152 263 | |
1 | −5176a −10180l 10394c 10397a −15925i | 223 319 362 | 73 239 263 297 | |
1 |
−5176a −8838e 12026h (10397 10398 10400 12705) |
126 136 189 223 360 362 | 73 263 | |
G | 6 | 4830n −7598f 10394c 10397a | 086 172 223 227 278 362 | 73 263 |
M* | 1 | 4164q 5351f 10394c 10397a (12705) | 129 189 223 297 298 | 73 150 199 263 |
Note.— Founding mtDNA types are shown in boldface italic. CRS = Cambridge reference sequence; d = deletion. Mutations relative to CRS [Andrews et al. 1999] are transitions unless the base change is specified.
Comprising 98 subjects overall.
The restriction enzymes are designated by the following single-letter codes appended to nucleotide positions: a = AluI; b = AvaII; c = DdeI; e = HaeIII; f = HhaI; g = HinfI; 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. Underlining of the restriction site implies the simultaneous presence/absence of the linked site that is correlated with a single-nucleotide substitution. 9bp-ins = 9-bp COII/tRNALys triplication. Additional mutations in the coding region are shown in parentheses and were identified or confirmed by sequencing.