WeGene, Shenzhen, 518040, China.
School of Information Science and Engineering, Central South University, Changsha, 410083, China.
Sci Rep. 2017 Apr 25;7(1):1146. doi: 10.1038/s41598-017-01340-z.
Y-chromosome Haplogroup O2a1c-002611 is one of the dominant lineages of East Asians and Southeast Asians. However, its internal phylogeny remains insufficiently investigated. In this study, we genotyped 89 new highly informative single nucleotide polymorphisms (SNPs) in 305 individuals with Haplogroup O2a1c-002611 identified from 2139 Han Chinese males. Two major branches were identified, O2a1c1-F18 and O2a1c2-L133.2 and the first was further divided into two main subclades, O2a1c1a-F11 and O2a1c1b-F449, accounting for 11.13% and 2.20% of Han Chinese, respectively. In Haplogroup O2a1c1a-F11, we also determined seven sublineages with quite different frequency distributions in Han Chinese ranging from 0.187% to 3.553%, implying they might have different demographic history. The reconstructed haplogroup tree for all the major clades within Haplogroup O2a1c-002611 permits better resolution of male lineages in population studies of East Asia and Southeast Asia. The dataset generated in the present study are also valuable for forensic identification and paternity tests in China.
Y 染色体单倍群 O2a1c-002611 是东亚和东南亚人群的主要支系之一。然而,其内部系统发育尚未得到充分研究。在这项研究中,我们对来自 2139 名汉族男性的 305 名 O2a1c-002611 个体进行了 89 个新的高度信息单核苷酸多态性(SNP)的基因分型。确定了两个主要分支,O2a1c1-F18 和 O2a1c2-L133.2,第一个分支进一步分为两个主要亚支,O2a1c1a-F11 和 O2a1c1b-F449,分别占汉族的 11.13%和 2.20%。在 O2a1c1a-F11 中,我们还确定了七个具有不同频率分布的亚支,在汉族中从 0.187%到 3.553%不等,这表明它们可能具有不同的人口历史。所有主要支系的重建单倍群树允许更好地解析东亚和东南亚人群的男性谱系。本研究中产生的数据集对于中国的法医鉴定和亲子鉴定也具有重要价值。