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Research Article| Volume 19, P255-262, November 2015

Haplotype analysis of the polymorphic 40 Y-STR markers in Chinese populations

      Highlights

      • The haplotypes of 40 Y-STRs of 1128 unrelated males from 6 Chinese populations.
      • The Y-STR haplotypes are highly polymorphic and have a high discriminating power.
      • Population substructure correction is not necessary due to small Fst and Gst values.

      Abstract

      Forty Y-STR loci were analyzed in 1128 males from the following six Chinese ethnic populations: Han (n = 300), Hui (n = 244), Korean (n = 100), Mongolian (n = 100), Uighur (n = 284) and Tibetan (n = 100), utilizing two new generation multiplex Y-STR systems, AGCU Y24 STR and GFS Y24 STR genotyping kits, which allow for the genotyping of 24 loci from a single amplification reaction in each system. The lowest estimates of genetic diversity (below 0.5) correspond to markers DYS391 (0.441658) and DYS437 (0.496977), and the greatest diversity corresponds to markers DYS385a/b (0.969919) and DYS527a/b (0.94676). A considerable number of duplicate and off-ladder alleles were also revealed. Additionally, there were 1111 different haplotypes identified from the total 1128 samples, of which 1095 were unique. Notably, no shared haplotypes between populations were observed. The estimated overall haplotype diversity (HD) was 0.999085, and its discrimination capacity (DC) was 0.970745. An MDS plot based on the genetic distances between populations showed the genetic similarity of the southern Han population to the Northern populations of Hui, Korean, Mongolian and Uighur and a clear genetic departure of the Tibetan population from other populations. For the Y STR markers, population substructure correction was considered when calculating the rarity of the Y STR profile. However, because the haplotype based Fst values are extremely small within the present data (0.000153 with 40 Y-STRs), no substructure correction is required to estimate the rarity of a haplotype comprising 40 markers. In summary, the results of our study indicate that the 40 Y-STRs have a high level of polymorphism in Chinese ethnic groups and could therefore be a powerful tool for forensic applications and population genetic studies.

      Keywords

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      References

        • Hammond H.A.
        • Jin L.
        • Zhong Y.
        • Caskey C.K.
        • Chakraborty R.
        Evaluation of 13 short tandem repeat loci for use in personal identification application.
        Am. J. Hum. Genet. 1994; 55: 175-189
        • Guo H.
        • Yan J.
        • Jiao Z.
        • Tang H.
        • Zhang Q.
        • Zhao L.
        • Hu N.
        • Li H.
        • Liu Y.
        Genetic polymorphisms for 17 Y-chromosomal STRs haplotypes in Chinese Hui population.
        Legal Med. (Tokyo). 2008; 10: 163-169
        • Wu W.
        • Pan L.
        • Hao H.
        • Zheng X.
        • Lin J.
        • Lu D.
        Population genetics of 17 Y-STR loci in a large Chinese Han population from Zhejiang Province, Eastern China.
        Forensic Sci. Int. Genet. 2011; 5: e11-e13
        • Zhu B.
        • Shen C.
        • Xun X.
        • Yan J.
        • Deng Y.
        • Zhu J.
        • Liu Y.
        Population genetic polymorphisms for 17 Y-chromosomal STRs haplotypes of Chinese Salar ethnic minority group.
        Legal Med. (Tokyo). 2007; 9: 203-209
        • Zhu B.
        • Wu Y.
        • Shen C.
        • Yang T.
        • Deng Y.
        • Xun X.
        • Tian Y.
        • Yan J.
        • Li T.
        Genetic analysis of 17 Y-chromosomal STRs haplotypes of Chinese Tibetan ethnic group residing in Qinghai province of China.
        Forensic Sci. Int. 2008; 175: 238-243
        • Huang T.Y.
        • Hsu Y.T.
        • Li J.M.
        • Chung J.H.
        • Shun C.T.
        Polymorphism of 17 Y-STR loci in Taiwan population.
        Forensic Sci. Int. 2008; 174: 249-254
        • Kayser M.
        • Kittler R.
        • Erler A.
        • Hedman M.
        • Lee A.C.
        • Mohyuddin A.
        • Mehdi S.Q.
        • Rosser Z.
        • Stoneking M.
        • Jobling M.A.
        • Sajantila A.
        • Tyler-Smith C.
        A comprehensive survey of human Y-chromosomal microsatellites.
        Am. J. Hum. Genet. 2008; 74: 1183-1197
        • Zhu B.F.
        • Zhang Y.D.
        • Liu W.J.
        • Meng H.T.
        • Yuan G.L.
        • Lv Z.
        • Dong N.
        • Li Q.
        • Yang C.H.
        • Zhang Y.H.
        • Hou Y.L.
        • Qian L.
        • Fan S.L.
        • Xu P.
        Genetic diversity and haplotype structure of 24 Y-chromosomal STR in Chinese Hui ethnic group and its genetic relationships with other populations.
        Electrophoresis. 2014; 35: 1993-2000
        • Liu C.
        • Liu H.
        • Li Y.
        • Ou X.L.
        • Sun H.Y.
        Development of a 2-plex Y chromosomal STR loci typing system.
        Forensic Sci. Int. Genet. Suppl. Ser. 2013; 4: 49-50
        • Shi M.
        • Liu Y.
        • Zhang J.
        • Bai R.
        • Lv X.
        • Ma S.
        Analysis of 24 Y chromosomal STR haplotypes in a Chinese Han population sample from Henan Province, Central China.
        Forensic Sci. Int. Genet. 2015; 17: 83-86
        • Gusmão J.M.
        • Butler A.
        • Carracedo P.
        • Gill M.
        • Kayser W.R.
        • Mayr N.
        • Morling M.
        • Prinz L.
        • Tyler-Smith C.
        • Schneider P.M.
        International Society of Forensic Genetics DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis.
        Forensic Sci. Int. 2006; 157: 187-197
        • Budowle B.
        • Ge J.
        • Aranda X.
        • Planz J.
        • Eisenberg A.
        • Chakraborty R.
        Texas population substructure and its impact on estimating the rarity of Y-STR haplotypes from DNA evidence.
        J. Forensic Sci. 2009; 54: 1016-1021
        • Weir B.S.
        • Cockerham C.C.
        Estimating F-statistics for the analysis of population structure.
        Evolution. 1984; 38: 1358-1370
        • Budowle B.
        • Ge J.
        • Aranda X.
        • Low J.
        • Lai C.
        • Yee W.H.
        • Law G.
        • Tan W.F.
        • Chang Y.M.
        • Perumal R.
        • Keat P.Y.
        • Mizuno N.
        • Kasai K.
        • Sekiguchi K.
        • Chakraborty R.
        The effects of Asian population substructure on Y-STR forensic analyses.
        Legal Med. 2009; 11: 64-69
        • Budowle B.
        • Adamowicz M.
        • Aranda X.
        • Barna C.
        • Chakraborty R.
        • Eisenberg A.J.
        • Frappier R.
        • Gross A.M.
        • Lee H.S.
        • Milne S.
        • Prinz M.
        • Saldanha G.
        • Krenke B.E.
        Twelve short tandem repeat loci Y chromosome haplotypes: genetic analysis on populations residing in North America.
        Forensic Sci. Int. 2005; 150: 1-15
        • Budowle B.
        • Ge J.
        • Chakraborty R.
        Basic principles for estimating the rarity of Y-STR haplotypes derived from forensic evidence.
        in: Eighteenth International Symposium on Human Identification, Promega Corporation, Madison, Wisconsin2007 (http://cn.promega.com/products/pm/genetic-identity/ishi-conference-proceedings/18th-ishi-oral-presentations/)
        • Nei M.
        Molecular Population Genetics and Evolution.
        North-Holland Publishing Company, North-Holland, Amsterdam1975: 149-150
        • Slatkin M.
        A measure of population subdivision based on microsatellite allele frequencies.
        Genetics. 1995; 139: 457-462
      1. Matlab, Available from: http://www.mathworks.com/help/toolbox/stats/cmdscale.html (accessed 10.02.11).

        • Purps J.
        • Siegert S.
        • Willuweit S.
        • Nagy M.
        • Alves C.
        • Salazar R.
        • et al.
        A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.
        Forensic Sci. Int. Genet. 2014; 12: 12-23
        • Ye Y.
        • Gao J.
        • Fan G.
        • Liao L.
        • Hou Y.
        Population genetics for 23 Y-STR loci in Tibetan in China and confirmation of DYS448 null allele.
        Forensic Sci. Int. Genet. 2015; 16: e7-10
        • Kim S.H.
        • Kim N.Y.
        • Hong S.B.
        • Cho N.S.
        • Kim J.J.
        • Han M.S.
        • Kim W.
        Genetic polymorphisms of 16 Y chromosomal STR loci in Korean population.
        Forensic Sci. Int. Genet. 2008; 2: e9-10
        • Vongpaisarnsin K.
        • Saengkaeotrakul P.
        • Boonlert A.
        • Tansrisawad N.
        Gene and haplotype diversity of 23 Y-chromosomal short tandem repeat loci in the central Thai population.
        Forensic Sci. Int. Genet. 2015; 14: 191-193
        • Ge J.
        • Budowle B.
        • Planz J.V.
        • Eisenberg A.J.
        • Ballantyne J.
        • Chakraborty R.
        US forensic Y-chromosome short tandem repeats database.
        Legal Med. (Tokyo). 2010; 12: 289-295
        • National Research Council
        The Evaluation of Forensic DNA Evidence.
        National Academy Press, Washington, D.C1996
        • Balding D.J.
        • Nichols R.A.
        DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands.
        Forensic Sci. Int. 1994; 64: 125-140
        • Gao Y.
        • Han J.T.
        • Shen C.M.
        • Wu H.
        • Yuan G.L.
        • Zhao L.J.
        • Yan J.W.
        • Meng H.T.
        • Zhang Y.D.
        • Liu W.J.
        • Wang H.D.
        • White R.E.
        • Wei X.
        Structural polymorphism analysis of Chinese Mongolian ethnic group revealed by a new STR panel: genetic relationship to other groups.
        Electrophoresis. 2014; 35: 2008-2013
        • Yao Y.G.
        • Nie L.
        • Harpending H.
        • Fu Y.X.
        • Yuan Z.G.
        • Zhang Y.P.
        Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity.
        Am. J. Phys. Anthropol. 2002; 118: 63-76