快速突变Y-STR基因座的法医学研究进展
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摘要
Y-STR广泛应用于法医DNA检验、亲缘鉴定和群体遗传学研究领域。突变率是解读Y-STR检验数据的重要依据,目前常用Y-STR基因座的突变率在2‰~3‰左右。然而,最近的研究表明,13个Y-STR基因座(DYF387S1、DYS399S1、DYF403S1、DYF404S1、DYS449、DYS518、DYS526b、DYS547、DYS570、DYS576、DYS612、DYS626、DYS627)的突变率显著高于其他Y-STR基因座,其突变率均在10‰以上,因此它们被称为快速突变Y-STRs(Rapid-Mutating Y-STRs或RM Y-STRs)。RM Y-STRs基因座具有高度多态性和高突变率的特点,这使其在区分不同家系上比常用Y-STR有更高的识别力,甚至在区分同一家系的不同男性个体上也显示出了应用潜力。RM Y-STRs的出现有望大大拓展Y-STR检验的应用范围,虽然其应用也在一定程度上改变了对Y-STR数据的解读规则,特别是父系亲缘关系的排除标准等。本文综述RM Y-STRs的研究和应用现状,并就有关问题进行了分析。
Y-STRs are widely used in the forensic genetics, paternity test and population studies. Interpretations of Y-STR data would greatly benefit from reliable locus-specific mutation rates. The most commonly used Y-STRs harbor an average mutation rate of 2‰~3‰. However, the recent studies indicated that the mutation rates of 13 Y-STR loci(DYF387 S1, DYS399 S1, DYF403 S1, DYF404 S1, DYS449, DYS518, DYS526 b, DYS547, DYS570, DYS576, DYS612, DYS626, DYS627) reach up to 10‰, thus making these loci designated as rapid mutating Y-STRs(RM Y-STRs). RM Y-STRs showed much higher discrimination power in differentiating paternal lineages because of their high polymorphism, and even exhibited the potential in distinguishing the closely males from those distantly related ones within same pedigrees as a result of the high mutation rates. RM Y-STRs will provide the increased utility and effectiveness to the genetic analysis of both male population and lineages although their application may also cause some problems in, for example, the criteria of exclusion of paternal relationship. In this paper, the research progress and application of RM Y-STRs in forensic area were reviewed and the relevant issues discussed.
Y-STRs are widely used in the forensic genetics, paternity test and population studies. Interpretations of Y-STR data would greatly benefit from reliable locus-specific mutation rates. The most commonly used Y-STRs harbor an average mutation rate of 2‰~3‰. However, the recent studies indicated that the mutation rates of 13 Y-STR loci(DYF387 S1, DYS399 S1, DYF403 S1, DYF404 S1, DYS449, DYS518, DYS526 b, DYS547, DYS570, DYS576, DYS612, DYS626, DYS627) reach up to 10‰, thus making these loci designated as rapid mutating Y-STRs(RM Y-STRs). RM Y-STRs showed much higher discrimination power in differentiating paternal lineages because of their high polymorphism, and even exhibited the potential in distinguishing the closely males from those distantly related ones within same pedigrees as a result of the high mutation rates. RM Y-STRs will provide the increased utility and effectiveness to the genetic analysis of both male population and lineages although their application may also cause some problems in, for example, the criteria of exclusion of paternal relationship. In this paper, the research progress and application of RM Y-STRs in forensic area were reviewed and the relevant issues discussed.
引文
[1]MANFRED K,RALF K,AXEL E,et al.A comprehensive survey of human Y-chromosomal microsatellites[J].American Journal of Human Genetics,2004,74(6):1183–1197.
[2]ERIN K,JACK B.Comprehensive annotated STR physical map of the human Y chromosome:Forensic implications[J].Legal Medicine,2006,8(2):110–120.
[3]MANFRED K,ANTTI S.Mutations at Y-STR loci:implications for paternity testing and forensic analysis[J].Forensic Science International,2001,118(2):116-121.
[4]YHRD.Y-chromosome STR haplotype reference database[DB/OL].http://yhrd.org/.
[5]BALLANTYNE K,MIRIAM G,RIXUN F,et al.Mutability of Y-Chromosome microsatellites:Rates,characteristics,molecular bases,and forensic implications[J].American Journal of Human Genetics,2010,87(3):341-353.
[6]BALLANTYNE K,ARWIN R,RACHID A,et al.Toward male individualization with rapidly mutating Y-chromosomal short tandem repeats[J].Human Mutation,2014,35(8):1021-1032.
[7]CONCETTA B,MIGUEL N.Mutation rate estimates for 110Y-chromosome STRs combining population and father–son pair data[J].European Journal of Human Genetics,2011,19(1):70–75.
[8]BALLANTYNE K,VICTORIA K,ANDREAS W,et al.A new future of forensic Y-chromosome analysis-rapidly mutating YSTRs for differentiating male relatives and paternal lineages[J].Forensic Science International Genetics,2012,6(2):208-218.
[9]ZHANG WQ,XIAO C,WEI T,et al.Haplotype diversity of 13RM Y-STRs in Chinese Han population and an update on the allele designation of DYF403S1[J].Forensic Science International Genetics,2016,23:e1–e9.
[10]吴微微,王怀锋,郝红蕾,等.中国汉族人群46个YSTR基因座多态性与突变调查[J].中国法医学杂志,2015,30(3):256-259.
[11]王瑛,张楚楚,李燃,等.中国南方汉族群体27个Y-STR基因座的遗传多态性及突变研究[J].中山大学学报(医学科学版)2015,36(5):650-656.
[12]WANG Y,ZHANG YJ,ZHANG CC,et al.Genetic polymorphisms and mutation rates of 27 Y-chromosomal STRs in a Han population from Guangdong province,southern China[J].Forensic Science International Genetics,2015,21:5-9.
[13]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,2014,29(6):514-518.
[14]OH YN,LEE HY,LEE EY,et al.Haplotype and mutation analysis for newly suggested Y-STRs in Korean father–son pairs[J].Forensic Sci Int Genet,2015,15:64–68.
[15]ZHANG WQ,YU J,WEI T,et al.Allele repeat structure and designation update for the Y-STR loci DYF399S1,DYS526b and DYS626[J].Forensic Science International Genetics,2015,20:147-148.
[16]HEDMAN M,NEUVONEN AM,SAJANTILA A,et al.Dissecting the Finnish male uniformity:The value of additional Y-STR loci[J].Forensic Science International Genetics,2011,5(3):199-201.
[17]ERIN K,BALLANTYNE K.An ultra-high discrimination Y chromosome short tandem repeat multiplex DNA typing system[J].Plos One,2007,2(8):e688.
[18]ROBINO C,RALF A,PASINO S,et al.Development of an Italian RM Y-STR haplotype database:Results of the 2013 GEFI collaborative exercise[J].Forensic Science International Genetics,2014,15:56-63.
[19]ANTOINETTE A,THIRSA K,LINDY C,et al.Analysis of 36Y-STR marker units including a concordance study among 2085Dutch males[J].Forensic Science International Genetics,2015,14:174–181.
[20]CESARE R,EUGENIA D,ALESSANDRO A,et al.Forensic genetic value of a 27 Y-STR loci multiplex(Yfiler Plus kit)in an Italian population sample[J].Forensic Science International Genetics,2016,21:e1–e5.
[21]JILL KO,HELLE SM,ANDERS B,et al.Forensic and population genetic analyses of Danes,Greenlanders and Somalis typed with the Yfiler Plus PCR amplification kit[J].Forensic Science International Genetics,2015,16:232-236.
[22]INES P,EVA M,WALTRAUD Z,et al.Yfiler Plus PCR amplification kit validation and calculation of forensic parameters for two Austrian populations[J].Forensic Science International Genetics,2015,21:90-94.
[23]YAO J,WANG BJ.Genetic variation of 25 Y-Chromosomal and 15 Autosomal STR Loci in the Han Chinese population of Liaoning province,northeast China[J].Plos One,2016,11(8):e0160415.
[24]GARCIA O,YURREBASO I,MANCISIDOR ID,et al.Data for 27 Y-chromosome STR loci in the Basque country autochthonous population[J].Forensic Science International Genetics,2015,21:97-98.
[25]BAI RF,LIU YJ,ZHANG JT,et al.Analysis of 27 Y-chromosomal STR haplotypes in a Han population of Henan province,central China[J].International Journal of Legal Medicine,2016,130(5):1191-1194.
[26]马立宇,胡利平,聂爱婷,等.云南白族人群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,2015,36(7):170-177.
[27]STEFANIA T,STEFANO C,MELISSA F,et al.Are rapidly mutating Y-short tandem repeats useful to resolve a lineage?Expanding mutability data on distant male relationships[J].Transfusion,2015,56(2):533–538.
[28]刘亚举,郭利红,李效阳.父子多个Y-STR基因座的突变分析[M]//刘烁,叶健.2016法医遗传学进展,北京:中国人民公安大学出版社,2016:175-177.
[29]NIAMH Nic Daéid.17th Interpol International Forensic Science Managers Symposium Review Papers[C].2013:827-829.
[30]GJERTSON DW,BRENNER CH,BAUR MP,et al.ISFG:recommendations on biostatistics in paternity testing[J].Forensic Science International Genetics,2007,1(3):223–231.
[31]GOEDBLOED M,VERMEULEN M,FANG RN,et al.Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the Amp Fl STR Yfiler PCR amplification kit[J].International Journal of Legal Medicine,2009,123(6):471–482.
[32]JIANYE G,BRUCE B,XAVIER G,et al.Mutation rates at Y chromosome short tandem repeats in Texas populations[J].Forensic Science International Genetics,2009(3):179-184.
[33]宋振,宋三平,贺永锋,等.Y-STR数据库在破获现案、冷案中的作用初探[M]//刘烁,叶健.2016法医遗传学进展,北京:中国人民公安大学出版社,2016:230-233.
[34]LIU H,LI X,MULERO J,et al.A convenient guideline to determine if two Y-STR profiles are from the same lineage[J].Electrophoresis,2016,37(12):1659-68.
[35]WILLIAM G.Forensic DNA typing protocols[M].Humana Press.2015:201-204.
[36]赵兴春.Y染色体法医DNA检验策略[J].中国法医学杂志,2016,31(3):228-230.
[2]ERIN K,JACK B.Comprehensive annotated STR physical map of the human Y chromosome:Forensic implications[J].Legal Medicine,2006,8(2):110–120.
[3]MANFRED K,ANTTI S.Mutations at Y-STR loci:implications for paternity testing and forensic analysis[J].Forensic Science International,2001,118(2):116-121.
[4]YHRD.Y-chromosome STR haplotype reference database[DB/OL].http://yhrd.org/.
[5]BALLANTYNE K,MIRIAM G,RIXUN F,et al.Mutability of Y-Chromosome microsatellites:Rates,characteristics,molecular bases,and forensic implications[J].American Journal of Human Genetics,2010,87(3):341-353.
[6]BALLANTYNE K,ARWIN R,RACHID A,et al.Toward male individualization with rapidly mutating Y-chromosomal short tandem repeats[J].Human Mutation,2014,35(8):1021-1032.
[7]CONCETTA B,MIGUEL N.Mutation rate estimates for 110Y-chromosome STRs combining population and father–son pair data[J].European Journal of Human Genetics,2011,19(1):70–75.
[8]BALLANTYNE K,VICTORIA K,ANDREAS W,et al.A new future of forensic Y-chromosome analysis-rapidly mutating YSTRs for differentiating male relatives and paternal lineages[J].Forensic Science International Genetics,2012,6(2):208-218.
[9]ZHANG WQ,XIAO C,WEI T,et al.Haplotype diversity of 13RM Y-STRs in Chinese Han population and an update on the allele designation of DYF403S1[J].Forensic Science International Genetics,2016,23:e1–e9.
[10]吴微微,王怀锋,郝红蕾,等.中国汉族人群46个YSTR基因座多态性与突变调查[J].中国法医学杂志,2015,30(3):256-259.
[11]王瑛,张楚楚,李燃,等.中国南方汉族群体27个Y-STR基因座的遗传多态性及突变研究[J].中山大学学报(医学科学版)2015,36(5):650-656.
[12]WANG Y,ZHANG YJ,ZHANG CC,et al.Genetic polymorphisms and mutation rates of 27 Y-chromosomal STRs in a Han population from Guangdong province,southern China[J].Forensic Science International Genetics,2015,21:5-9.
[13]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,2014,29(6):514-518.
[14]OH YN,LEE HY,LEE EY,et al.Haplotype and mutation analysis for newly suggested Y-STRs in Korean father–son pairs[J].Forensic Sci Int Genet,2015,15:64–68.
[15]ZHANG WQ,YU J,WEI T,et al.Allele repeat structure and designation update for the Y-STR loci DYF399S1,DYS526b and DYS626[J].Forensic Science International Genetics,2015,20:147-148.
[16]HEDMAN M,NEUVONEN AM,SAJANTILA A,et al.Dissecting the Finnish male uniformity:The value of additional Y-STR loci[J].Forensic Science International Genetics,2011,5(3):199-201.
[17]ERIN K,BALLANTYNE K.An ultra-high discrimination Y chromosome short tandem repeat multiplex DNA typing system[J].Plos One,2007,2(8):e688.
[18]ROBINO C,RALF A,PASINO S,et al.Development of an Italian RM Y-STR haplotype database:Results of the 2013 GEFI collaborative exercise[J].Forensic Science International Genetics,2014,15:56-63.
[19]ANTOINETTE A,THIRSA K,LINDY C,et al.Analysis of 36Y-STR marker units including a concordance study among 2085Dutch males[J].Forensic Science International Genetics,2015,14:174–181.
[20]CESARE R,EUGENIA D,ALESSANDRO A,et al.Forensic genetic value of a 27 Y-STR loci multiplex(Yfiler Plus kit)in an Italian population sample[J].Forensic Science International Genetics,2016,21:e1–e5.
[21]JILL KO,HELLE SM,ANDERS B,et al.Forensic and population genetic analyses of Danes,Greenlanders and Somalis typed with the Yfiler Plus PCR amplification kit[J].Forensic Science International Genetics,2015,16:232-236.
[22]INES P,EVA M,WALTRAUD Z,et al.Yfiler Plus PCR amplification kit validation and calculation of forensic parameters for two Austrian populations[J].Forensic Science International Genetics,2015,21:90-94.
[23]YAO J,WANG BJ.Genetic variation of 25 Y-Chromosomal and 15 Autosomal STR Loci in the Han Chinese population of Liaoning province,northeast China[J].Plos One,2016,11(8):e0160415.
[24]GARCIA O,YURREBASO I,MANCISIDOR ID,et al.Data for 27 Y-chromosome STR loci in the Basque country autochthonous population[J].Forensic Science International Genetics,2015,21:97-98.
[25]BAI RF,LIU YJ,ZHANG JT,et al.Analysis of 27 Y-chromosomal STR haplotypes in a Han population of Henan province,central China[J].International Journal of Legal Medicine,2016,130(5):1191-1194.
[26]马立宇,胡利平,聂爱婷,等.云南白族人群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,2015,36(7):170-177.
[27]STEFANIA T,STEFANO C,MELISSA F,et al.Are rapidly mutating Y-short tandem repeats useful to resolve a lineage?Expanding mutability data on distant male relationships[J].Transfusion,2015,56(2):533–538.
[28]刘亚举,郭利红,李效阳.父子多个Y-STR基因座的突变分析[M]//刘烁,叶健.2016法医遗传学进展,北京:中国人民公安大学出版社,2016:175-177.
[29]NIAMH Nic Daéid.17th Interpol International Forensic Science Managers Symposium Review Papers[C].2013:827-829.
[30]GJERTSON DW,BRENNER CH,BAUR MP,et al.ISFG:recommendations on biostatistics in paternity testing[J].Forensic Science International Genetics,2007,1(3):223–231.
[31]GOEDBLOED M,VERMEULEN M,FANG RN,et al.Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the Amp Fl STR Yfiler PCR amplification kit[J].International Journal of Legal Medicine,2009,123(6):471–482.
[32]JIANYE G,BRUCE B,XAVIER G,et al.Mutation rates at Y chromosome short tandem repeats in Texas populations[J].Forensic Science International Genetics,2009(3):179-184.
[33]宋振,宋三平,贺永锋,等.Y-STR数据库在破获现案、冷案中的作用初探[M]//刘烁,叶健.2016法医遗传学进展,北京:中国人民公安大学出版社,2016:230-233.
[34]LIU H,LI X,MULERO J,et al.A convenient guideline to determine if two Y-STR profiles are from the same lineage[J].Electrophoresis,2016,37(12):1659-68.
[35]WILLIAM G.Forensic DNA typing protocols[M].Humana Press.2015:201-204.
[36]赵兴春.Y染色体法医DNA检验策略[J].中国法医学杂志,2016,31(3):228-230.