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. 2023 Sep 20;10(9):230814.
doi: 10.1098/rsos.230814. eCollection 2023 Sep.

Comprehensive insights into the genetic background of Chinese populations using Y chromosome markers

Jienan Li  1 , Feng Song  2 , Min Lang  3 , Mingkun Xie  4
Affiliations

Comprehensive insights into the genetic background of Chinese populations using Y chromosome markers

Jienan Li et al. R Soc Open Sci. .

Abstract

China is located in East Asia. With a high genetic and cultural diversity, human migration in China has always been a hot topic of genetics research. To explore the origins and migration routes of Chinese males, 3333 Chinese individuals (Han, Hui, Mongolia, Yi and Kyrgyz) with 27 Y-STRs and 143 Y-SNPs from published literature were analysed. Our data showed that there are five dominant haplogroups (O2-M122, O1-F265, C-M130, N-M231, R-M207) in China. Combining analysis of haplogroup frequencies, geographical positions and time with the most recent common ancestor (TMRCA), we found that haplogroups C-M130, N-M231 and R1-M173 and O1a-M175 probably migrated into China via the northern route. Interestingly, we found that haplogroup C*-M130 in China may originate in South Asia, whereas the major subbranches C2a-L1373 and C2b-F1067 migrated from northern China. The results of BATWING showed that the common ancestry of Y haplogroup in China can be traced back to 17 000 years ago, which was concurrent with global temperature increases after the Last Glacial Maximum.

Keywords: Chinese; Y haplogroups; Y-STR; genetic markers; paternal lineages.

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Conflict of interest statement

We have no competing interests.

Figures

Figure 1.
Figure 1.
Geographical locations and haplogroup distribution of sampling including 11 Han (marked by Yellow Box), 9 Hui (marked by Black Box), 3 Mongolia (marked by Green Box), 2 Yi (marked by Purple Box) and 1 Kyrgyz (marked by Red Box) populations in China.
Figure 2.
Figure 2.
Contour map of haplogroup frequencies in Chinese. (a) The contour map of haplogroup frequencies of C. (b) The contour map of sub-haplogroup frequencies of C2a. (c) The contour map of sub-haplogroup frequencies of C2b. (d) The contour map of haplogroup frequencies of D. (e) The contour map of haplogroup frequencies of J. (f) The contour map of haplogroup frequencies of N. (g) The contour map of haplogroup frequencies of O1. (h) The contour map of haplogroup frequencies of O2. (i) The contour map of haplogroup frequencies of R.
Figure 3.
Figure 3.
Network for these five ethnic groups using 23 Y-STR and 143 Y-SNP. The size of node was according haplotype frequency. (a) The network of haplogroup C-M130. (b) The network of haplogroup O1-F265. (c) The network of haplogroup O2-M122.
Figure 4.
Figure 4.
Relationship between populations in this study and other worldwide references. (a) Heatmap of genetic distance between populations in this and ancient references. (b) PCA result showed an overview population relationship between populations in this and ancient references.
See this image and copyright information in PMC

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