Sequence variation of mitochondrial DNA control region in Koreans

Identification of Native American Founder mtDNAs Through the Analysis of Complete mtDNA Sequences: Some Caveats

“…The three sequences with this motif that appear in the Korean data of Snäll et al (2002), however, tested positively for the RFLP site +4830 HaeII (recognizing a transition at nt 4833) of haplogroup G. We additionally found the 4833 transition (confirmed by +4831 HhaI) in four mtDNAs from China (Table 2). Because all of these mtDNA sequences that belong to haplogroup G have (near-)matches with sequences sampled in Japan (Horai et al 1996;Imaizumi et al 2002;Koyama et al 2002), Korea (Pfeiffer et al 1998;Lee et al 1997Lee et al , 2002, and China (Tsai et al 2001;Yao et al 2000Yao et al , 2003a, it appears that these sequences also belong to haplogroup G. The vast majority of these HVS-I and HVS-II sequences share the 150 polymorphism. In particular, eleven HVS-I and HVS-II sequences from the Korean sample of Lee et al (1997) carry the partial motif 16223-16325; seven of them have the additional part 16362-150 of the motif, Yao et al (2003a) and the data underlying figure 1 of Mishmar et al (2003), respectively; 2 n.d. = not determined.…”

“…This Korean data set, however, is known to contain errors (Bandelt et al 2001). There is also confusion because a more recent study by the same investigators shows a reverse pattern for the 16362 polymorphism, so that out of nine mtDNAs with the partial motif 16223-16325 seven lack the 16362 transition, whereas the other two (P173 and H120) were evidently taken from the earlier study (Lee et al 1997). In the mitochondrial cytochrome b gene, these nine Korean mtDNAs are characterized by three transitions that occurred at nucleotides 15323, 15497, and 15860 -notwithstanding three instances of unrecorded mutations at 15323 and 15497.…”

Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages

“…In order to compare the present results with other populations, HVRI data from several European, Middle Eastern, Indian, Central Asian, and East Asian populations were taken from the literature: Kazaks, 3 Kyrgyz, 3 Uighurs, 3 , Altaics, 21 Mongolians, 22,23 Daur, 23 Oroqen, 23 Turks, 24 -26 Han Chinese, 17,27 Han Taiwanese, 28 Ainu, 28 Koreans, 23,28,29 Japanese, 28,30 Europeans, 31 Middle Easterns, 31 Caucasus populations, 32,33 Thai, 34 Indians, 35 Russians, 36,37 Ukrainians, 37 and Siberians. 23,38,39 The networks relating HVRI sequences within some of the haplogroups described were constructed by using a reduced-median algorithm 40 as implemented in the Network 3.0 program.…”

Median Networks: Speedy Construction and Greedy Reduction, One Simulation, and Two Case Studies from Human mtDNA

“…Taking RFLP information Torroni et al, 1994) and further Asian HVS I and II data (Lee et al, 1997) into consideration, we would predict that a major part of the branch described by 16362C belongs to haplogroup D, 16304C in conjunction with a deletion at np 00248 characterizes haplogroup F, and the nucleotides 16290T, 16319A, and 00235G together determine haplogroup A. When we put together the MT1 and MT3 data, we estimate a tentative tree of total length 44 steps (not shown); two mutations are inferred at nps 16249, 00195, 00199, and 00207, three mutations at nps 16311, 00146, and 00152, and four mutations at np 00150: see Fig.…”