Kwon So Yeun, Lee Hwan Young, Lee Eun Young, Yang Woo Ick, Shin Kyoung-Jin
Brain Korea 21 PLUS Project for Medical Science, Yonsei University, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, South Korea; Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, South Korea.
Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, South Korea.
Forensic Sci Int Genet. 2015 Nov;19:42-46. doi: 10.1016/j.fsigen.2015.06.003. Epub 2015 Jun 12.
Y chromosome single nucleotide polymorphisms (Y-SNPs) are useful markers for reconstructing male lineages through hierarchically arranged allelic sets known as haplogroups, and are thereby widely used in the fields such as human evolution, anthropology and forensic genetics. The Y haplogroup tree was recently revised with newly suggested Y-SNP markers for designation of several subgroups of haplogroups C2, O2b and O3a, which are predominant in Koreans. Therefore, herein we analyzed these newly suggested Y-SNPs in 545 unrelated Korean males who belong to the haplogroups C2, O2b or O3a, and investigated the reconstructed topology of the Y haplogroup tree. We were able to confirm that markers L1373, Z1338/JST002613-27, Z1300, CTS2657, Z8440 and F845 define the C2 subhaplogroups, C2b, C2e, C2e1, C2e1a, C2e1b and C2e2, respectively, and that markers F3356, L682, F11, F238/F449 and F444 define the O subhaplogroups O2b1, O2b1b, O3a1c1, O3a1c2 and O3a2c1c, respectively. Among six C2 subhaplogroups (C2b, C2e, C2e1*, C2e1a, C2e1b and C2e2), the C2e haplogroup and its subhaplogroups were found to be predominant, and among the four O2b subhaplogroups (O2b*, O2b1*, O2b1a and O2b1b), O2b1b was most frequently observed. Among the O3a subhaplogroups, O3a2c1 was predominant and it was further divided into the subhaplogroups O3a2c1a and O3a2c1c with a newly suggested marker. However, the JST002613-27 marker, which had been known to define the haplogroup C2f, was found to be an ancestral marker of the C2e haplogroup, as is the Z1338 marker. Also, the M312 marker for the O2b1 haplogroup designation was replaced by F3356, because all of the O2b1 haplotypes showed a nucleotide change at F3356, but not at M312. In addition, the F238 marker was always observed to be phylogenetically equivalent to F449, while both of the markers were assigned to the O3a1c2 haplogroup. The confirmed phylogenetic tree of this study with the newly suggested Y-SNPs could be valuable for anthropological and forensic investigations of East Asians including Koreans.
Y染色体单核苷酸多态性（Y-SNPs）是通过称为单倍群的分层排列等位基因集来重建男性谱系的有用标记，因此在人类进化、人类学和法医遗传学等领域被广泛使用。Y单倍群树最近使用新提出的Y-SNP标记进行了修订，用于指定单倍群C2、O2b和O3a的几个亚群，这些亚群在韩国人中占主导地位。因此，我们在此分析了545名属于C2、O2b或O3a单倍群的无亲缘关系韩国男性中的这些新提出的Y-SNPs，并研究了Y单倍群树的重建拓扑结构。我们能够确认标记L1373、Z1338/JST002613-27、Z1300、CTS2657、Z8440和F845分别定义了C2亚单倍群C2b、C2e、C2e1、C2e1a、C2e1b和C2e2，并且标记F3356、L682、F11、F238/F449和F444分别定义了O亚单倍群O2b1、O2b1b、O3a1c1、O3a1c2和O3a2c1c。在六个C2亚单倍群（C2b、C2e、C2e1*、C2e1a、C2e1b和C2e2）中，发现C2e单倍群及其亚单倍群占主导地位，在四个O2b亚单倍群（O2b*、O2b1*、O2b1a和O2b1b）中，O2b1b观察到的频率最高。在O3a亚单倍群中，O3a2c1占主导地位，并且它用新提出的标记进一步分为O3a2c1a和O3a2c1c亚单倍群。然而，已知定义单倍群C2f的JST002613-27标记被发现是C2e单倍群的祖先标记，Z1338标记也是如此。此外，用于指定O2b1单倍群的M312标记被F3356取代，因为所有O2b1单倍型在F3356处显示核苷酸变化，但在M312处没有。此外，总是观察到F238标记在系统发育上等同于F449，而这两个标记都被分配到O3a1c2单倍群。本研究中使用新提出的Y-SNPs确认的系统发育树对于包括韩国人在内的东亚人的人类学和法医调查可能是有价值的。
