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J Zhejiang Univ (Med Sci)  2021, Vol. 50 Issue (6): 777-782    DOI: 10.3724/zdxbyxb-2021-0180
    
Research progress on application of microhaplotype in forensic genetics
ZHOU Jing1,WANG Yan1,XU Enping1,2,*()
1.?Department of Pathology and Pathophysiology, School of Basic Medical Sciences, Zhejiang University, Hangzhou 310058, China;
2. Forensic Science Center, Zhejiang University, Hangzhou 310029, China
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Abstract  

As a novel genetic marker, microhaplotype can be applied in the field of forensic genetics. Microhaplotype has the advantages of high polymorphism, low mutation rate, no stutter products and short amplification fragments. Microhaplotype can effectively detect mixture, and quantitatively analyze the contributors of mixture. DNA with severe fragmentation can be successfully genotyped by microhaplotype. It can be used as ancestry informative marker to effectively divide the global continental population according to genetic structure. Microhaplotype system can provide more information than traditional short tandem repeat and help to identify complex relationships. It can provide new ideas for tumor source identification, cell line identification and prenatal paternity testing. Here we review the applications of microhaplotype, intending to provide references for forensic practice.



Key wordsForensic genetics      Microhaplotype      Biological evidence      DNA mixture      Degraded DNA      Ancestry inference      Complex kinship testing      Review     
Received: 29 June 2021      Published: 22 March 2022
CLC:  R89  
  DF795.2  
Corresponding Authors: XU Enping     E-mail: xep@zju.edu.cn
Cite this article:

ZHOU Jing,WANG Yan,XU Enping. Research progress on application of microhaplotype in forensic genetics. J Zhejiang Univ (Med Sci), 2021, 50(6): 777-782.

URL:

https://www.zjujournals.com/med/10.3724/zdxbyxb-2021-0180     OR     https://www.zjujournals.com/med/Y2021/V50/I6/777


微单倍型在法医遗传学中的研究进展

微单倍型是一种可以应用于法医遗传学的新型遗传标记,具有多态性高、突变率低、无stutter产物、扩增片段短的特点。微单倍型可以有效检出混合斑,并对混合斑贡献者定量分析;对严重碎片化的DNA成功分型,应用于降解检材;作为始祖信息位点将全球大陆人群按照遗传结构进行有效划分;提供比短串联重复更多的信息量,帮助鉴定复杂亲缘关系;还可以为肿瘤身源鉴定、细胞系鉴定、产前亲子鉴定提供新的思路,因此具有非常广阔的应用前景。本文就微单倍型的上述应用方向进行论述,以期为法医学实践提供参考。


关键词: 法医遗传学,  微单倍型,  生物学物证,  混合斑,  降解检材,  种族推断,  复杂亲缘关系,  综述 
[1]   PAKSTISA J, FANGR, FURTADOM R, et al.Mini-haplotypes as lineage informative SNPs and ancestry inference SNPs[J]Eur J Hum Genet, 2012, 20( 11): 1148-1154.
doi: 10.1038/ejhg.2012.69
[2]   KIDDK K, PAKSTISA J, SPEEDW C, et al.Microhaplotype loci are a powerful new type of forensic marker[J/OL]Forensic Sci Int-Genet Supplement Ser, 2013, 4( 1): e123-e124.
doi: 10.1016/j.fsigss.2013.10.063
[3]   OLDONIF, PODINID. Forensic molecular biomarkers for mixture analysis[J]Forensic Sci Int-Genet, 2019, 107-119.
doi: 10.1016/j.fsigen.2019.04.003
[4]   JUNGJ Y, PARKJ H, OHY L, et al.Forensic genetic study of 29 Y-STRs in Korean population[J]Legal Med, 2016, 17-20.
doi: 10.1016/j.legalmed.2016.09.001
[5]   VAN DER GAAGK J, DE LEEUWR H, HOOGENBOOMJ, et al.Massively parallel sequencing of short tandem repeats——population data and mixture analysis results for the PowerSeqTM system[J]Forensic Sci Int-Genet, 2016, 86-96.
doi: 10.1016/j.fsigen.2016.05.016
[6]   OLDONIF, CASTELLAV, GROSJEANF, et al.Sensitive DIP-STR markers for the analysis of unbalanced mixtures from?“touch”?DNA samples[J]Forensic Sci Int-Genet, 2017, 111-117.
doi: 10.1016/j.fsigen.2017.02.004
[7]   KIDDK K, SPEEDW C. Criteria for selecting microhaplotypes: mixture detection and deconvolution[J]Invest Genet, 2015, 6( 1): 1.
doi: 10.1186/s13323-014-0018-3
[8]   KIDDK K, SPEEDW C, PAKSTISA J, et al.Evaluating 130 microhaplotypes across a global set of 83 populations[J]Forensic Sci Int-Genet, 2017, 29-37.
doi: 10.1016/j.fsigen.2017.03.014
[9]   CHENP, YINC, LIZ, et al.Evaluation of the Microhaplotypes panel for DNA mixture analyses[J]Forensic Sci Int-Genet, 2018, 149-155.
doi: 10.1016/j.fsigen.2018.05.003
[10]   TURCHIC, MELCHIONDAF, PESARESIM, et al.Evaluation of a microhaplotypes panel for forensic genetics using massive parallel sequencing technology[J]Forensic Sci Int-Genet, 2019, 120-127.
doi: 10.1016/j.fsigen.2019.04.009
[11]   BULBULO, PAKSTISA J, SOUNDARARAJANU, et al.Ancestry inference of 96 population samples using microhaplotypes[J]Int J Legal Med, 2018, 132( 3): 703-711.
doi: 10.1007/s00414-017-1748-6
[12]   VOSKOBOINIKL, MOTROU, DARVASIA. Facilitating complex DNA mixture interpretation by sequencing highly polymorphic haplotypes[J]Forensic Sci Int-Genet, 2018, 136-140.
doi: 10.1016/j.fsigen.2018.05.001
[13]   CHENP, DENGC, LIZ, et al.A microhaplotypes panel for massively parallel sequencing analysis of DNA mixtures[J]Forensic Sci Int-Genet, 2019, 140-149.
doi: 10.1016/j.fsigen.2019.02.018
[14]   LIUJ, HAOT, CHENGX, et al.DIP-microhaplotypes: new markers for detection of unbalanced DNA mixtures[J]Int J Legal Med, 2021, 135( 1): 13-21.
doi: 10.1007/s00414-020-02288-y
[15]   PANGJ B, RAOM, CHENQ F, et al.A 124-plex microhaplotype panel based on next-generation sequencing developed for forensic applications[J]Sci Rep, 2020, 10( 1): 1945.
doi: 10.1038/s41598-020-58980-x
[16]   BENNETTL, OLDONIF, LONGK, et al.Mixture deconvolution by massively parallel sequencing of microhaplotypes[J]Int J Legal Med, 2019, 133( 3): 719-729.
doi: 10.1007/s00414-019-02010-7
[17]   ALAEDDINIR, WALSHS J, ABBASA. Forensic implications of genetic analyses from degraded DNA——a review[J]Forensic Sci Int-Genet, 2010, 4( 3): 148-157.
doi: 10.1016/j.fsigen.2009.09.007
[18]   SIRIBOONPIPUTTANAT, RINTHACHAIT, SHOTIVARANONJ, et al.Forensic genetic analysis of bone remain samples[J]Forensic Sci Int, 2018, 167-175.
doi: 10.1016/j.forsciint.2017.12.045
[19]   BUTLERJ M, SHENY, MCCORDB R. The development of reduced size STR amplicons as tools for analysis of degraded DNA[J]J Forensic Sci, 2003, 48( 5): 2003043.
doi: 10.1520/JFS2003043
[20]   WAIK T, GUNNP, BARASHM. Development of the MitoQ assay as a real-time quantification of mitochondrial DNA in degraded samples[J]Int J Legal Med, 2019, 133( 2): 411-417.
doi: 10.1007/s00414-018-1956-8
[21]   MACHIDAM, TAKIT, KIBAYASHIK. Screening for single nucleotide polymorphisms in highly degraded DNA by using the amplified fragment length polymorphism technique[J]Forensic Sci Int-Genet, 2017, 5-11.
doi: 10.1016/j.fsigen.2017.08.007
[22]   HUANGY, LIUC, XIAOC, et al.Development of a new 32-plex InDels panel for forensic purpose[J]Forensic Sci Int-Genet, 2020, 102171.
doi: 10.1016/j.fsigen.2019.102171
[23]   VAN DER GAAGK J, DE LEEUWR H, LAROSJ F J, et al.Short hypervariable microhaplotypes: a novel set of very short high discriminating power loci without stutter artefacts[J]Forensic Sci Int-Genet, 2018, 169-175.
doi: 10.1016/j.fsigen.2018.05.008
[24]   DE LA PUENTEM, PHILLIPSC, XAVIERC, et al.Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems[J]Forensic Sci Int-Genet, 2020, 102213.
doi: 10.1016/j.fsigen.2019.102213
[25]   PHILLIPSC, PARSONW, LUNDSBERGB, et al.Building a forensic ancestry panel from the ground up: the EUROFORGEN Global AIM-SNP set[J]Forensic Sci Int-Genet, 2014, 13-25.
doi: 10.1016/j.fsigen.2014.02.012
[26]   ZAUMSEGELD, ROTHSCHILDM A, SCHNEIDERP M. A 21 marker insertion deletion polymorphism panel to study biogeographic ancestry[J]Forensic Sci Int-Genet, 2013, 7( 2): 305-312.
doi: 10.1016/j.fsigen.2012.12.007
[27]   PHILLIPSC, MCNEVIND, KIDDK K, et al.MAPlex —— a massively parallel sequencing ancestry analysis multiplex for Asia-Pacific populations[J]Forensic Sci Int-Genet, 2019, 213-226.
doi: 10.1016/j.fsigen.2019.06.022
[28]   CHEUNGE Y Y, PHILLIPSC, EDUARDOFFM, et al.Performance of ancestry-informative SNP and microhaplotype markers[J]Forensic Sci Int-Genet, 2019, 102141.
doi: 10.1016/j.fsigen.2019.102141
[29]   OLDONIF, HARTR, LONGK, et al.Microhaplotypes for ancestry prediction[J/OL]Forensic Sci Int-Genet Supplement Ser, 2017, e513-e515.
doi: 10.1016/j.fsigss.2017.09.209
[30]   易少华, 刘宇轩, 胡清清, 等. 采用家系基因型重建法鉴定半同胞关系1例[J]. 中国法医学杂志, 2015, 30(2): 184-187
YI Shaohua, LIU Yuxuan, HU Qingqing, et al. A case of half sib relationship was identified by family genotype reconstruction[J]. Chinese Journal of Forensic Medicine, 2015, 30(2): 184-187. (in Chinese)
[31]   屈 宁, 梁 灏, 杨冬桂, 等. 家系基因型重建法鉴定半同胞关系1例分析[J]. 中国法医学杂志, 2019, 34(4): 404-406, 403
QU Ning, LIANG Hao, YANG Donggui, et al. Identification of half sib relationship by family genotype reconstruction: a case analysis[J]. Chinese Journal of Forensic Medicine, 2019, 34(4): 404-406, 403. (in Chinese)
[32]   PINTON, GUSM?OL, AMORIMA. X-chromosome markers in kinship testing: a generalisation of the IBD approach identifying situations where their contribution is crucial[J]Forensic Sci Int-Genet, 2011, 5( 1): 27-32.
doi: 10.1016/j.fsigen.2010.01.011
[33]   中华人民共和国司法部司法鉴定管理局. SF/Z JD0105006—2018法医物证鉴定X-STR检验规范[S]. 2018
Bureau of Judicial Forensic Administration, Ministry of Justice of the People’s Republic of China. SF/Z JD0105006—2018. X-STR test specification for forensic physical evidence identification[S]. 2018. (in Chinese)
[34]   ZHANGQ, ZHOUZ, WANGL, et al.Pairwise kinship testing with a combination of STR and SNP loci[J]Forensic Sci Int-Genet, 2020, 102265.
doi: 10.1016/j.fsigen.2020.102265
[35]   MOS K, RENZ L, YANGY R, et al.A 472-SNP panel for pairwise kinship testing of second-degree relatives[J]Forensic Sci Int-Genet, 2018, 178-185.
doi: 10.1016/j.fsigen.2018.02.019
[36]   ZHUJ, CHENP, QUS, et al.Evaluation of the microhaplotype markers in kinship analysis[J]Electrophoresis, 2019, 40( 7): 1091-1095.
doi: 10.1002/elps.201800351
[37]   ZHUJ, LVM, ZHOUN, et al.Genotyping polymorphic microhaplotype markers through the Illumina? MiSeq platform for forensics[J]Forensic Sci Int-Genet, 2019, 1-7.
doi: 10.1016/j.fsigen.2018.11.005
[38]   SUNS, LIUY, LIJ, et al.Development and application of a nonbinary SNP-based microhaplotype panel for paternity testing involving close relatives[J]Forensic Sci Int-Genet, 2020, 102255.
doi: 10.1016/j.fsigen.2020.102255
[39]   CHENA, ZHANGS, LIJ, et al.Detecting genetic hypermutability of gastrointestinal tumor by using a forensic STR kit[J]Front Med, 2020, 14( 1): 101-111.
doi: 10.1007/s11684-019-0698-4
[40]   CAPES-DAVISA, REIDY A, KLINEM C, et al.Match criteria for human cell line authentication: where do we draw the line?[J]Int J Cancer, 2013, 132( 11): 2510-2519.
doi: 10.1002/ijc.27931
[41]   YUM, SELVARAJS K, LIANG-CHUM M Y, et al.A resource for cell line authentication, annotation and quality control[J]Nature, 2015, 520( 7547): 307-311.
doi: 10.1038/nature14397
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