法医物证检验中常染色体STR位点突变的研究进展
|
摘要
短串联重复序列(Short tandem repeat,STR)是目前法医物证领域最常用的遗传标志之一,在刑事侦查、亲权鉴定、个人识别乃至DNA数据库的构建中都有着十分重要的地位。而在实际检案中常常遇见STR位点发生突变的现象,本文从突变机制与模式、突变相关特征、主要影响因素、杂合性丢失的现象与可能的原因等方面综述了常染色体STR突变的法医学研究进展,回顾国内外相关研究,为正确分析STR突变,并科学应用于法医物证提供参考。
Short tandem repeats(STR) are currently the most commonly used genetic markers in forensic genetic field.They are indisputable important genetics in criminal investigation,paternity testing,personal identification,and the construction of DNA database.In actual cases,mutations at STR loci are often encountered.This article reviews the progress of forensic research on the autosomal STR mutation from the aspects of genetic mutation mechanism and the pattern,mutation characteristics,main influencing factors,loss of heterozygosity and its possible causes.The related studies of domestic and overseas are reviewed to provide references for correct analysis of STR genetic mutations and scientific application in forensic physical evidence.
Short tandem repeats(STR) are currently the most commonly used genetic markers in forensic genetic field.They are indisputable important genetics in criminal investigation,paternity testing,personal identification,and the construction of DNA database.In actual cases,mutations at STR loci are often encountered.This article reviews the progress of forensic research on the autosomal STR mutation from the aspects of genetic mutation mechanism and the pattern,mutation characteristics,main influencing factors,loss of heterozygosity and its possible causes.The related studies of domestic and overseas are reviewed to provide references for correct analysis of STR genetic mutations and scientific application in forensic physical evidence.
引文
[1] 侯一平.法医物证学 [M].第4版.北京:人民卫生出版社,2016:33-34.
[2] 李海霞,马晓燕,张晋湘,等.24个常用STR基因座的突变观察与分析[J].中山大学学报,2010,31(1):13-16.
[3] 胡锡阶,刘祖林,余丽梅,等.贵州汉族人群15个STR基因座遗传多态性研究[J].遵义医学院学报,2017,40(6):599-602.
[4] John M Butler.法医DNA分型STR遗传标记的生物学、方法学及遗传学[M].北京:科学出版社,2007:85-86.
[5] Jia Y S,Zhang L,Qi L Y,et al.Multistep microsatellite mutation leading to father-child mismatch of FGA locus in a case of non-exclusion parentage[J].Leg Med (Tokyo),2015,17(5):364-365.
[6] Davis C,Illescas M,Tirado C,et al.A case of Amelogenin Y-null:a simple primer binding site mutation or unusual genetic anomaly[J].Leg Med (Tokyo),2012,14(6):320-323.
[7] Liu Y X,Zhang W Q,Jia Y S,et al.Multistep microsatellite mutation in a case of non-exclusion parentage[J].Forensic Sci Int Genet,2015,16:205-207.
[8] 兰菲菲,陈延冰,杜丽,等.亲子鉴定常用STR 基因座突变的特点[J].广东医学,2016,37(2):218-220.
[9] Jin B,Su Q,Luo H,et al.Mutational analysis of 33 autosomal short tandem repeat (STR) loci in southwest Chinese Han population based on trio parentage testing[J].ForensicSci Int Genet,2016,23:86-90.
[10]Liu Q L,Chen Y F,Huang X L,et al.Population data and mutation rates of 19 STR loci in seven provinces from China based on Goldeneye DNA IDSystem20A[J].Int J Legal Med,2017,131(3):653-656.
[11]Lu D,Liu Q,Wu W,et al.Mutation analysis of 24 short tandem repeats in Chinese Han population[J].Int J Legal Med,2012,126(2):331-335.
[12]Zhang X,Liu L,Xie R,et al.Population data and mutation rates of 20 autosomal STR loci in a Chinese Han population from Yunnan Province,Southwest China[J].Int J Legal Med,2017,414(17):1675-1676.
[13]周单华,陈鹏宇,余丽梅.常染色体STR基因座三等位基因在法医DNA鉴定及临床实践中的意义[J].遵义医学院学报,2018,41(2):384-388.
[14]Hong S B,Kim S H,Kim K C,et al.Korean population genetic data and concordance for the PowerPlex? ESX 17,AmpFlSTR Identifiler?,and PowerPlex? 16 systems[J].Forensic Sci Int Genet,2013,7(3):47-51.
[15]Xiao C,Peng Z,Chen F,et al.Mutation analysis of 19commonly used short tandem repeat loci in a Guangdong Han population[J].Leg Med (Tokyo),2018,5(32):92-97.
[16]Su Q,Jin B,Luo H,et al.Population study and mutation analysis for 28 short tandem repeat loci in southwest Chinese Han population[J].J Fornsic Leg Med,2016,44:10-13.
[17]Ballantyne K N,Goedbloed M,Fang R.Mutability of Y-chromosomal microsatellites:rates,characteristics,molecular bases,and forensic implications[J].Am J Hum Genet,2010,87(3):341-353.
[18]Wang H D,Kang B,Su N,et al.Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population[J].Int J Legal Med,2017,131(1):103-105.
[19]Jeffreys A J,Cotton V E,Neumann R,et al.Recombination regulator PRDM9 influences the instability of its own coding sequence in humans[J].Proc Natl Acad Sci USA,2013,110(2):600-605.
[20]马沁雅,申君毅.AGCU-Y24-STR和YfilerTM-STR试剂盒的比较研究[J].中国刑警学院学报,2017(1):105-107.
[21]Tsuji A,Ishiko A,Umehara T,et al.A silent allele in the locus D19S433 contained within the AmpFlSTR Identifiler PCR Amplification Ki[J].Leg Med (Tokyo),2010,12(2):94-96.
[22]Mizuno N,Kitayama T,Fujii K,et al.A D19S433 primer binding site mutation and the frequency in japanese of the silent allele It causes[J].J Forensic Sci,2008,53(5):1068-1073.
[23]Takayama T,Takada N,Suzuki R,et al.Identification of a rare mutation in a TH01 primer binding sie[J].Leg Med (Tokyo),2007,9(6):289-292.
[24]Ricci U,Melean G,Robino C,et al.A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity testCase[J].J Forensic Sci,2007,52(2):393-396.
[25]Vanderheyden N,Mai A,Gilissen A,et al.Identification and sequence analysis of discordant phenotypes between AmpFlSTR SGM Plus and PowerPlex16[J].Int J Legal Med,2007,121(4):297-301.
[26]Chen L,Tai Y,Qiu P,et al.A silent allele in the locus D5S818 contained within the PowerPlex?21 PCR Amplification Kit[J].Leg Med (Tokyo),2015,17(6):509-511.
[27]Hedman M,Palo J U.Long D13S317 variant allele:a cautionary case report[J].Forensic Sci Int Genet,2015,14:38-41.
[28]Filoglu G,Bulbul O,Rayimoglu G,et al.Evaluation of reliability on STR typing at leukemic patients used for forensic purposes[J].Mol Biol Rep,2014,41(6):3961-3972.
[29]Ananian V,Tozzo P,Ponzano E,et al.Tumoural specimens for forensic purposes:comparison of genetic alterations in frozen and formalin-fixed paraffin-embedded tissues[J].Int J Legal Med,2011,125(3):327-332.
[2] 李海霞,马晓燕,张晋湘,等.24个常用STR基因座的突变观察与分析[J].中山大学学报,2010,31(1):13-16.
[3] 胡锡阶,刘祖林,余丽梅,等.贵州汉族人群15个STR基因座遗传多态性研究[J].遵义医学院学报,2017,40(6):599-602.
[4] John M Butler.法医DNA分型STR遗传标记的生物学、方法学及遗传学[M].北京:科学出版社,2007:85-86.
[5] Jia Y S,Zhang L,Qi L Y,et al.Multistep microsatellite mutation leading to father-child mismatch of FGA locus in a case of non-exclusion parentage[J].Leg Med (Tokyo),2015,17(5):364-365.
[6] Davis C,Illescas M,Tirado C,et al.A case of Amelogenin Y-null:a simple primer binding site mutation or unusual genetic anomaly[J].Leg Med (Tokyo),2012,14(6):320-323.
[7] Liu Y X,Zhang W Q,Jia Y S,et al.Multistep microsatellite mutation in a case of non-exclusion parentage[J].Forensic Sci Int Genet,2015,16:205-207.
[8] 兰菲菲,陈延冰,杜丽,等.亲子鉴定常用STR 基因座突变的特点[J].广东医学,2016,37(2):218-220.
[9] Jin B,Su Q,Luo H,et al.Mutational analysis of 33 autosomal short tandem repeat (STR) loci in southwest Chinese Han population based on trio parentage testing[J].ForensicSci Int Genet,2016,23:86-90.
[10]Liu Q L,Chen Y F,Huang X L,et al.Population data and mutation rates of 19 STR loci in seven provinces from China based on Goldeneye DNA IDSystem20A[J].Int J Legal Med,2017,131(3):653-656.
[11]Lu D,Liu Q,Wu W,et al.Mutation analysis of 24 short tandem repeats in Chinese Han population[J].Int J Legal Med,2012,126(2):331-335.
[12]Zhang X,Liu L,Xie R,et al.Population data and mutation rates of 20 autosomal STR loci in a Chinese Han population from Yunnan Province,Southwest China[J].Int J Legal Med,2017,414(17):1675-1676.
[13]周单华,陈鹏宇,余丽梅.常染色体STR基因座三等位基因在法医DNA鉴定及临床实践中的意义[J].遵义医学院学报,2018,41(2):384-388.
[14]Hong S B,Kim S H,Kim K C,et al.Korean population genetic data and concordance for the PowerPlex? ESX 17,AmpFlSTR Identifiler?,and PowerPlex? 16 systems[J].Forensic Sci Int Genet,2013,7(3):47-51.
[15]Xiao C,Peng Z,Chen F,et al.Mutation analysis of 19commonly used short tandem repeat loci in a Guangdong Han population[J].Leg Med (Tokyo),2018,5(32):92-97.
[16]Su Q,Jin B,Luo H,et al.Population study and mutation analysis for 28 short tandem repeat loci in southwest Chinese Han population[J].J Fornsic Leg Med,2016,44:10-13.
[17]Ballantyne K N,Goedbloed M,Fang R.Mutability of Y-chromosomal microsatellites:rates,characteristics,molecular bases,and forensic implications[J].Am J Hum Genet,2010,87(3):341-353.
[18]Wang H D,Kang B,Su N,et al.Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population[J].Int J Legal Med,2017,131(1):103-105.
[19]Jeffreys A J,Cotton V E,Neumann R,et al.Recombination regulator PRDM9 influences the instability of its own coding sequence in humans[J].Proc Natl Acad Sci USA,2013,110(2):600-605.
[20]马沁雅,申君毅.AGCU-Y24-STR和YfilerTM-STR试剂盒的比较研究[J].中国刑警学院学报,2017(1):105-107.
[21]Tsuji A,Ishiko A,Umehara T,et al.A silent allele in the locus D19S433 contained within the AmpFlSTR Identifiler PCR Amplification Ki[J].Leg Med (Tokyo),2010,12(2):94-96.
[22]Mizuno N,Kitayama T,Fujii K,et al.A D19S433 primer binding site mutation and the frequency in japanese of the silent allele It causes[J].J Forensic Sci,2008,53(5):1068-1073.
[23]Takayama T,Takada N,Suzuki R,et al.Identification of a rare mutation in a TH01 primer binding sie[J].Leg Med (Tokyo),2007,9(6):289-292.
[24]Ricci U,Melean G,Robino C,et al.A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity testCase[J].J Forensic Sci,2007,52(2):393-396.
[25]Vanderheyden N,Mai A,Gilissen A,et al.Identification and sequence analysis of discordant phenotypes between AmpFlSTR SGM Plus and PowerPlex16[J].Int J Legal Med,2007,121(4):297-301.
[26]Chen L,Tai Y,Qiu P,et al.A silent allele in the locus D5S818 contained within the PowerPlex?21 PCR Amplification Kit[J].Leg Med (Tokyo),2015,17(6):509-511.
[27]Hedman M,Palo J U.Long D13S317 variant allele:a cautionary case report[J].Forensic Sci Int Genet,2015,14:38-41.
[28]Filoglu G,Bulbul O,Rayimoglu G,et al.Evaluation of reliability on STR typing at leukemic patients used for forensic purposes[J].Mol Biol Rep,2014,41(6):3961-3972.
[29]Ananian V,Tozzo P,Ponzano E,et al.Tumoural specimens for forensic purposes:comparison of genetic alterations in frozen and formalin-fixed paraffin-embedded tissues[J].Int J Legal Med,2011,125(3):327-332.