山东汉族人群中13个快速突变(RM)Y-STR基因座的多态性
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摘要
本研究旨在调查13个快速突变Y染色体STR基因座(RM Y-STR)在山东汉族人群中的等位基因频率以及遗传多态性。采集154个山东无关男性个体FTA卡血液样本。采用13个RM Y-STR PCR复合扩增体系进行扩增以及AB 3130 XL遗传分析仪进行Y-STR分型,并对分型结果进行相关统计,检测13个RM Y-STR位点遗传多态性分布。本研究在13个基因座上共检测出331个等位基因,基因型多态性(GD)分布在0.7643 (DYS576)～0.9946 (DYF399S1abc)之间。通过13个RM Y-STR基因座在154名山东汉族男性无关个体中共检测出154种单倍型,无共享单倍型现象出现。总的单倍型多样性(HD值)为1,识别能力(DC值)为1。故13个RM Y-STR基因座组成的分型系统在山东汉族人群中表现出很强的个体识别能力,具有重要的法医学应用价值。
To verify the allele frequency and the haplotype diversity of the 13 rapidly mutating(RM) Y-STRs in Shandong province,Chinese Han population,we collected 154 unrelated male blood samples on FTA cards,and amplified the 13 RM Y-STRs with multiple PCR and tested the genotype using 3130 XL(ABI) Genetic Analyzer.Among 13 RM Y-STRs,we observed a total of 331 alleles,and the values of gene diversity for each STR ranged from 0.7643(DYS576)～0.9946(DYF399 S1 abc).Altogether 154 different haplotypes were identified from 154 unrelated male individuals and the haplotype diversity reached 1.We make a Conclusion that 13 RM Y-STRs show strong discrimination power and great application value for forensic in Shandong Han population.
To verify the allele frequency and the haplotype diversity of the 13 rapidly mutating(RM) Y-STRs in Shandong province,Chinese Han population,we collected 154 unrelated male blood samples on FTA cards,and amplified the 13 RM Y-STRs with multiple PCR and tested the genotype using 3130 XL(ABI) Genetic Analyzer.Among 13 RM Y-STRs,we observed a total of 331 alleles,and the values of gene diversity for each STR ranged from 0.7643(DYS576)～0.9946(DYF399 S1 abc).Altogether 154 different haplotypes were identified from 154 unrelated male individuals and the haplotype diversity reached 1.We make a Conclusion that 13 RM Y-STRs show strong discrimination power and great application value for forensic in Shandong Han population.
引文
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[3]Jobling MA,Pandya A,Tyler-Smith C.The Y chromosome in forensic analysis and paternity testing[J].Int J Legal Med,1997,110(3):118-124
[4]De Knijff P,Kayser M,Caglia A,et al.Chromosome Y microsatellites:population genetic and evolutionary aspects[J].Int J Legal Med,1997,110(3):134-149
[5]Ballantyne KN,Keerl V,Wollstein A,et al.A new future of forensic Y-chromosome analysis:Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages[J].Forensic Science International Genetics,2011,6(2):208-218
[6]Kayser M,Caglia A,Corach D,et al.Evaluation of Y-chromosomal STRs:A multicenter study[J].Int J Legal Med,1997,110(3):125-133,141-149
[7]Goedbloed M,Vermeulen M,Fang RN,et al.Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR?Yfiler?PCR amplification kit[J].International Journal of Legal Medicine,2009,123(6):471-482
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[9]Ballantyne KN,Goedbloed M,Fang R,et al.Mutability of Y-chromosomal microsatellites:rates,characteristics,molecular bases,and forensic implications[J].Am J Hum Genet,2010,87(3):341-353
[10]Ballantyne KN,Ralf A,Aboukhalid R,et al.Toward male individualization with rapidly mutating y-chromosomal short tandem repeats[J].Hum Mutat,2014,35(8):1021-1032
[11]Parson W,Niederst?tter H,Brandst?tter A,et al.Improved specificity of Y-STR typing in DNA mixture samples[J].International Journal of Legal Medicine,2003,117(2):109-114
[12]Prinz M,Boll K,Baum H,et al.Multiplexing of Y chromosome specific STRs and performance for mixed samples[J].Forensic Science International,1997,85(3):209-18
[13]Coble MD,Hill CR,Butler JM.Haplotype data for 23 Y-chromosome markers in four U.S.population groups[J].Forensic Sci Int Genet,2013,7(3):e66-e68
[14]Alghafri R,Alhammadi S,Amiri K.A comparison between Yfiler?and RM Y-STRs in United Arab Emirates population[J].Forensic Science International:Genetics Supplement Series,2015,5:e650-e652
[15]Rossi E,Rolf B,Schurenkamp M,et al.Y-chromosome STR haplotypes in an Italian population sample[J].Int J Legal Med,1998,112(1):78-81
[16]王新杰,许欣,黄磊,等.山东汉族人群63个Y-STR基因座突变观察及法医学应用[J].刑事技术,2016(5):424-428
[17]Zhang W,Xiao C,Wei T,et al.Haplotype diversity of 13 RM Y-STRs in Chinese Han population and an update on the allele designation of DYF403S1[J].Forensic Sci Int Genet,2016,23:e1-e9
[18]贾东涛,徐中华,王守宇.新疆维吾尔族群体22个Y-STR基因座的多态性分析[J].法医学杂志,2016(03):224-226
[19]杨洪毅,徐朝阳,宋丽君,等.河南汉族14个Y-STR基因位点单倍型的遗传多态性[J].郑州大学学报(医学版),2012(02):223-225
[20]孙凯臻,彭珊,刘超,等.广东汉族群体24个Y-STR基因座的多态性及突变率[J].中国法医学杂志,2014(06):514-518
[21]马立宇,胡利平,聂爱婷,等.南白族人群13个快速突变(RM)Y-STR基因座多态性研究[J].昆明医科大学学报,2015(07):170-177
[22]Han Y,Li L,Liu X,et al.Genetic analysis of 17 Y-STR loci in Han and Korean populations from Jilin Province,Northeast China[J].Forensic Science International Genetics,2016,22:8-10
[23]Li L,Yu G,Li S,et al.Genetic analysis of 17 Y-STR loci from 1019 individuals of six Han populations in East China[J].Forensic Science International Genetics,2016,20:101
[2]Underhill PA,Kivisild T.Use of y chromosome and mitochondrial DNA population structure in tracing human migrations[J].Annu Rev Genet,2007,41:539-564
[3]Jobling MA,Pandya A,Tyler-Smith C.The Y chromosome in forensic analysis and paternity testing[J].Int J Legal Med,1997,110(3):118-124
[4]De Knijff P,Kayser M,Caglia A,et al.Chromosome Y microsatellites:population genetic and evolutionary aspects[J].Int J Legal Med,1997,110(3):134-149
[5]Ballantyne KN,Keerl V,Wollstein A,et al.A new future of forensic Y-chromosome analysis:Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages[J].Forensic Science International Genetics,2011,6(2):208-218
[6]Kayser M,Caglia A,Corach D,et al.Evaluation of Y-chromosomal STRs:A multicenter study[J].Int J Legal Med,1997,110(3):125-133,141-149
[7]Goedbloed M,Vermeulen M,Fang RN,et al.Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR?Yfiler?PCR amplification kit[J].International Journal of Legal Medicine,2009,123(6):471-482
[8]Kayser M,Roewer L,Hedman M,et al.Characteristics and frequency of germline mutations at microsatellite loci from the human Ychromosome,as revealed by direct observation in father/son pairs[J].Am J Hum Genet,2000,66(5):1580-1588
[9]Ballantyne KN,Goedbloed M,Fang R,et al.Mutability of Y-chromosomal microsatellites:rates,characteristics,molecular bases,and forensic implications[J].Am J Hum Genet,2010,87(3):341-353
[10]Ballantyne KN,Ralf A,Aboukhalid R,et al.Toward male individualization with rapidly mutating y-chromosomal short tandem repeats[J].Hum Mutat,2014,35(8):1021-1032
[11]Parson W,Niederst?tter H,Brandst?tter A,et al.Improved specificity of Y-STR typing in DNA mixture samples[J].International Journal of Legal Medicine,2003,117(2):109-114
[12]Prinz M,Boll K,Baum H,et al.Multiplexing of Y chromosome specific STRs and performance for mixed samples[J].Forensic Science International,1997,85(3):209-18
[13]Coble MD,Hill CR,Butler JM.Haplotype data for 23 Y-chromosome markers in four U.S.population groups[J].Forensic Sci Int Genet,2013,7(3):e66-e68
[14]Alghafri R,Alhammadi S,Amiri K.A comparison between Yfiler?and RM Y-STRs in United Arab Emirates population[J].Forensic Science International:Genetics Supplement Series,2015,5:e650-e652
[15]Rossi E,Rolf B,Schurenkamp M,et al.Y-chromosome STR haplotypes in an Italian population sample[J].Int J Legal Med,1998,112(1):78-81
[16]王新杰,许欣,黄磊,等.山东汉族人群63个Y-STR基因座突变观察及法医学应用[J].刑事技术,2016(5):424-428
[17]Zhang W,Xiao C,Wei T,et al.Haplotype diversity of 13 RM Y-STRs in Chinese Han population and an update on the allele designation of DYF403S1[J].Forensic Sci Int Genet,2016,23:e1-e9
[18]贾东涛,徐中华,王守宇.新疆维吾尔族群体22个Y-STR基因座的多态性分析[J].法医学杂志,2016(03):224-226
[19]杨洪毅,徐朝阳,宋丽君,等.河南汉族14个Y-STR基因位点单倍型的遗传多态性[J].郑州大学学报(医学版),2012(02):223-225
[20]孙凯臻,彭珊,刘超,等.广东汉族群体24个Y-STR基因座的多态性及突变率[J].中国法医学杂志,2014(06):514-518
[21]马立宇,胡利平,聂爱婷,等.南白族人群13个快速突变(RM)Y-STR基因座多态性研究[J].昆明医科大学学报,2015(07):170-177
[22]Han Y,Li L,Liu X,et al.Genetic analysis of 17 Y-STR loci in Han and Korean populations from Jilin Province,Northeast China[J].Forensic Science International Genetics,2016,22:8-10
[23]Li L,Yu G,Li S,et al.Genetic analysis of 17 Y-STR loci from 1019 individuals of six Han populations in East China[J].Forensic Science International Genetics,2016,20:101