Ancient DNA evidence reveals that the Y chromosome haplogroup Q1a1 admixed into the Han Chinese 3,000 years ago

• Published in: American journal of human biology 2014-11, Vol.26 (6), p.813-821
• Main Authors: Zhao, Yong-Bin, Zhang, Ye, Li, Hong-Jie, Cui, Ying-Qiu, Zhu, Hong, Zhou, Hui
• Format: Article
• Language: English
• Subjects: Asian Continental Ancestry Group - genetics; China; Chromosomes, Human, Y - genetics; Genetics, Population; Haplotypes; Humans; Male; Polymorphism, Single Nucleotide; Sequence Analysis, DNA
• ISSN: 1042-0533; 1520-6300
• DOI: 10.1002/ajhb.22604

Objectives Y chromosome haplogroup Q1a1 is found almost only in Han Chinese populations. However, it has not been found in ancient Han Chinese samples until now. Thus, the origin of haplogroup Q1a1 in Han Chinese is still obscure. This study attempts to provide answer to this question, and to uncover the origin and paternal genetic structure of the ancestors of the Han Chinese. Methods Eighty‐nine ancient human remains that were excavated from the presumed geographic source of the Han Chinese and dated to approximately 3,000 years ago were treated by the amelogenin gene polymerase chain reaction test, to determine their sex. Then, Y chromosome single nucleotide polymorphisms were subsequently analyzed from the samples detected as male. Results Samples from 27 individuals were successfully amplified. Their haplotypes could be attributed to haplogroups N, O*, O2a, O3a, and Q1a1. Analyses showed that the assigned haplogroup of each sample is correlated to the suspected social status and observed burial custom associated with the sample. Conclusions The origins of the observed haplotypes and their distribution in present day Han Chinese and in the samples suggest that haplogroup Q1a1 was probably introduced into the Han Chinese population approximately 3,000 years ago. Am. J. Hum. Biol. 26:813–821, 2014. © 2014 Wiley Periodicals, Inc.