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Hum Genet. 2017 May;136(5):485-497. doi: 10.1007/s00439-017-1759-x. Epub 2017 Jan 30.

Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes.

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Department of Statistical Genetics and Bioinformatics, Cologne Center for Genomics (CCG), University of Cologne, Weyertal 115b, 50931, Cologne, Germany.
Department of Public Security Technology, The Center for Forensic Science Research, Railway Police College, Zhengzhou, 450053, People's Republic of China.
Department of Forensic Medicine, National Police University of China, Shenyang, 110854, People's Republic of China.
Department of Criminal Investigation, Shaanxi Provincial Public Security Bureau, Xi'an, 710016, People's Republic of China.
Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, 610041, People's Republic of China.
Molecular Biology and Forensic Genetics Laboratory, Shantou University Medical College, Shantou, People's Republic of China.
Department of Forensic Medicine, Guizhou Medical University, Beijing Road, 9th, Guiyang, 550004, People's Republic of China.
Liaoning Criminal and Science Technology Research Institute, Shenyang, 110032, People's Republic of China.
Department of Biological Sciences, Dankook University, Cheonan, 330-714, Republic of Korea.
Department of Neurology, University of California, San Francisco, San Francisco, CA, 94158, USA.
Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Institute of Forensic Sciences, Ministry of Justice, P.R. China, Shanghai, 200063, People's Republic of China.
MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, People's Republic of China.
Department of Criminal Investigation, Hebei Provincial Public Security Bureau, Shijiazhuang City, 050000, People's Republic of China.
Guangzhou Forensic Science Institute, Guangzhou, 510030, People's Republic of China.
School of Forensic Medicine, Kunming Medical University, Kunming, 650500, People's Republic of China.
Center of Cooperative Innovation for Judicial Civilization, Institute of Evidence Law and Forensic Science, China University of Political Science and Law, Ministry of Education, Beijing, 100088, People's Republic of China.
Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, 510089, People's Republic of China.
Department of Forensic Medicine, Guangdong Medical University, Dongguan, 523808, People's Republic of China.
Department of Forensic Sciences, Police Station of Zhengzhou, Zhengzhou, Henan, 450008, People's Republic of China.
Department of Archaeogenetics, Max Planck Institute for the Science of Human History, Jena, Germany.
Institute of Forensic Medicine and Laboratory Medicine, Jining Medical University, Jining, Shandong, People's Republic of China.
Xinxiang Medical University School of Basic Medical, Xinxiang, Henan, 453003, People's Republic of China.
Institute of Forensic Science, Zhejiang Provincial Public Security Bureau, Hangzhou, 310009, People's Republic of China.
School of Forensic Medicine, China Medical University, Shenyang, People's Republic of China.
Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, People's Republic of China.
Key Laboratory of Evidence Science of Gansu Province, Gansu Institute of Political Science and Law, Lanzhou, 730070, People's Republic of China.
School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, Henan, 450052, People's Republic of China.
Forensic Science Department, School of Basic Medical Sciences, Central South University, Changsha, 410013, People's Republic of China.
Department of Pathology, Department of Surgery, Department of Oncology, University of Western Ontario, Lawson Health Research Institute, London, Canada.
Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin Berlin, Berlin, Germany.


China has repeatedly been the subject of genetic studies to elucidate its prehistoric and historic demography. While some studies reported a genetic distinction between Northern and Southern Han Chinese, others showed a more clinal picture of small differences within China. Here, we investigated the distribution of Y chromosome variation along administrative as well as ethnic divisions in the mainland territory of the People's Republic of China, including 28 administrative regions and 19 recognized Chinese nationalities, to assess the impact of recent demographic processes. To this end, we analyzed 37,994 Y chromosomal 17-marker haplotype profiles from the YHRD database with respect to forensic diversity measures and genetic distance between groups defined by administrative boundaries and ethnic origin. We observed high diversity throughout all Chinese provinces and ethnicities. Some ethnicities, including most prominently Kazakhs and Tibetans, showed significant genetic differentiation from the Han and other groups. However, differences between provinces were, except for those located on the Tibetan plateau, less pronounced. This discrepancy is explicable by the sizeable presence of Han speakers, who showed high genetic homogeneity all across China, in nearly all studied provinces. Furthermore, we observed a continuous genetic North-South gradient in the Han, confirming previous reports of a clinal distribution of Y chromosome variation and being in notable concordance with the previously observed spatial distribution of autosomal variation. Our findings shed light on the demographic changes in China accrued by a fast-growing and increasingly mobile population.

[Indexed for MEDLINE]

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