在中国东北汉族人群中验证复合DIP-STR遗传标记
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摘要
目的建立适宜的复合扩增体系,并在中国东北汉族人群中验证所选择的DIP-STR遗传标记,以推动DIP-STR遗传标记应用于实际办案。方法参照Diana Hall等人设计的单遗传标记扩增体系,建立合适的复合扩增体系并以中国东北汉族人群进行验证,对等位基因频率、单倍型数、观察杂合度、有效基因型等相关参数数据进行统计和计算。结果构建了合适的复合扩增体系。经对107个样本验证估计得出等位基因频率,所选择8个DIP-STR遗传标记具有较高的有效基因型概率(I值)。结论 8个DIP-STR遗传标记在中国东北汉族人群中具有应用价值。
Objective Establishing an appropriate composite amplification system of DIP-STR genetic markers to promote their application into practical cases through verifying them in the Han population of northeast China. Methods Based on the single-genetic marker amplification system designed by Diana Hall et al, a suitable composite amplification system of DIP-STR genetic markers was to build up and verify in the Han population of northeast China. Statistical analysis and calculation were carried out into the relevant data of allelic frequency, haplotype amount, observed heterozygosity and informative genotypes.Results The composite amplification system of DIP-STR genetic markers was successfully established. With the estimation of allelic frequencies through verification from 107 samples into the established composite amplification system, the selected 8 DIPSTR genetic markers had a high probability of informative genotype(I value). Conclusion The eight DIP-STR genetic markers and the involving composite amplification system have forensic applicability in the Han population of northeast China.
Objective Establishing an appropriate composite amplification system of DIP-STR genetic markers to promote their application into practical cases through verifying them in the Han population of northeast China. Methods Based on the single-genetic marker amplification system designed by Diana Hall et al, a suitable composite amplification system of DIP-STR genetic markers was to build up and verify in the Han population of northeast China. Statistical analysis and calculation were carried out into the relevant data of allelic frequency, haplotype amount, observed heterozygosity and informative genotypes.Results The composite amplification system of DIP-STR genetic markers was successfully established. With the estimation of allelic frequencies through verification from 107 samples into the established composite amplification system, the selected 8 DIPSTR genetic markers had a high probability of informative genotype(I value). Conclusion The eight DIP-STR genetic markers and the involving composite amplification system have forensic applicability in the Han population of northeast China.
引文
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[7]FRéGEAU C J,BOWEN K L,LECLAIR B,et al.AmpFlSTRprofiler Plus short tandem repeat DNA analysis of casework samples,mixture samples,and nonhuman DNA samples amplifi ed under reduced PCR volume conditions(25 microL)[J].Journal of Forensic Science,2003,48(5):1014-1034.
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[10]VERMEULEN M,WOLLSTEIN A,VAN DER GAAG K,et al.Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphisms[J].Forensic Science International:Genetics,2009,3(4):205-213.
[11]VESTHEIM H,JARMAN S N.Blocking primers to enhance PCR amplifi cation of rare sequences in mixed samples-a case study on prey DNA in Antarctic krill stomachs[J].Frontiers in Zoology,2008,5(1):12.
[12]ROEWER L.Y chromosome STR typing in crime casework[J].Forensic Science,Medicine,and Pathology,2009,5(2):77-84.
[13]BUTLER J M.Recent developments in Y-short tandem repeat and Y-single nucleotide polymorphism analysis[J].Analysis,2003,15(2):91-114.
[14]CASTELLA V,GERVAIX J,HALL D.DIP-STR:highly sensitive markers for the analysis of unbalanced genomic mixtures[J].Human Mutation,2013,34(4):644-654.
[15]OLDONI F,CASTELLA V,HALL D.A novel set of DIP-STRmarkers for improved analysis of challenging DNA mixtures[J].Forensic Science International:Genetics,2015,19:156-164.
[16]CEREDA G,BIEDERMANN A,HALL D,et al.Objectoriented Bayesian networks for evaluating DIP-STR profi ling results from unbalanced DNA mixtures[J].Forensic Science International:Genetics,2014,8(1):159-169.
[17]OLDONI F,CASTELLA V,HALL D.Application of DIP-STRs to sexual/physical assault investigations:Eight case reports[J].Forensic Science International:Genetics,2017,30:106-113.
[18]OLDONI F,CASTELLA V,GROSJEAN F,et al.Sensitive DIP-STR markers for the analysis of unbalanced mixtures from“touch”DNA samples[J].Forensic Science International:Genetics,2017,28:111-117.
[19]TAN Y,WANG L,WANG H,et al.An investigation of a set of DIP STR markers to detect unbalanced DNA mixtures among the southwest Chinese Han population[J].Forensic Science International:Genetics,2017,31:34-39
[2]JOBLING M A,GILL P.Encoded evidence:DNA in forensic analysis[J].Nature Reviews:Genetics,2004,5(10):739.
[3]VAN NESTE C,VAN NIEUWERBURGH F,VAN HOOF-STAT D,et al.Forensic STR analysis using massive parallel sequencing[J].Forensic Science International:Genetics,2012,6(6):810-818.
[4]BORNMAN D,HESTER M E,SCHUETTER J M,et al.Shortread,high-throughput sequencing technology for STR genotyping[J].BioTechniques Rapid dispatches,2012,2012(1):1-6.
[5]WANG D Y,CHANG C W,LAGACéR,et al.Developmental validation of the AmpFlSTR?Identifi ler?Plus PCR Amplifi cation Kit:an established multiplex assay with improved performance[J].Journal of Forensic Sciences,2012,57(2):453-465.
[6]LIN S W,LI C,IP C Y.A selection guide for the new generation6-dye DNA profi ling systems[J].Forensic Science International:Genetics,2017,30:34-42.
[7]FRéGEAU C J,BOWEN K L,LECLAIR B,et al.AmpFlSTRprofiler Plus short tandem repeat DNA analysis of casework samples,mixture samples,and nonhuman DNA samples amplifi ed under reduced PCR volume conditions(25 microL)[J].Journal of Forensic Science,2003,48(5):1014-1034.
[8]SUTHERLAND C,O’BRIEN R,FIGARELLI D,et al.The evaluation of eight commercially available STR kits-technology evaluation[J].NCJRS Abstracts Database:National Institute of Justice,2009,1:1-15.
[9]VAN OORSCHOT R A,JONES M K.DNA fi ngerprints from fi ngerprints[J].Nature,1997,387(6635):767.
[10]VERMEULEN M,WOLLSTEIN A,VAN DER GAAG K,et al.Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphisms[J].Forensic Science International:Genetics,2009,3(4):205-213.
[11]VESTHEIM H,JARMAN S N.Blocking primers to enhance PCR amplifi cation of rare sequences in mixed samples-a case study on prey DNA in Antarctic krill stomachs[J].Frontiers in Zoology,2008,5(1):12.
[12]ROEWER L.Y chromosome STR typing in crime casework[J].Forensic Science,Medicine,and Pathology,2009,5(2):77-84.
[13]BUTLER J M.Recent developments in Y-short tandem repeat and Y-single nucleotide polymorphism analysis[J].Analysis,2003,15(2):91-114.
[14]CASTELLA V,GERVAIX J,HALL D.DIP-STR:highly sensitive markers for the analysis of unbalanced genomic mixtures[J].Human Mutation,2013,34(4):644-654.
[15]OLDONI F,CASTELLA V,HALL D.A novel set of DIP-STRmarkers for improved analysis of challenging DNA mixtures[J].Forensic Science International:Genetics,2015,19:156-164.
[16]CEREDA G,BIEDERMANN A,HALL D,et al.Objectoriented Bayesian networks for evaluating DIP-STR profi ling results from unbalanced DNA mixtures[J].Forensic Science International:Genetics,2014,8(1):159-169.
[17]OLDONI F,CASTELLA V,HALL D.Application of DIP-STRs to sexual/physical assault investigations:Eight case reports[J].Forensic Science International:Genetics,2017,30:106-113.
[18]OLDONI F,CASTELLA V,GROSJEAN F,et al.Sensitive DIP-STR markers for the analysis of unbalanced mixtures from“touch”DNA samples[J].Forensic Science International:Genetics,2017,28:111-117.
[19]TAN Y,WANG L,WANG H,et al.An investigation of a set of DIP STR markers to detect unbalanced DNA mixtures among the southwest Chinese Han population[J].Forensic Science International:Genetics,2017,31:34-39
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