Please wait a minute...
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
Download: HTML( 16 )   PDF(1981KB)
Export: BibTeX | EndNote (RIS)      


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  
Corresponding Authors: XU Enping     E-mail:
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:     OR



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
[1] LU Xixuan,BAO Lisha,PAN Zongfu,GE Minghua. Immunotherapy for anaplastic thyroid carcinoma: the present and future[J]. J Zhejiang Univ (Med Sci), 2021, 50(6): 675-684.
[2] QIAN Chenhong,JIANG Liehao,XU Shiying,WANG Jiafeng,TAN Zhuo,XIN Ying,GE Minghua. Advances in targeted therapy for anaplastic thyroid carcinoma[J]. J Zhejiang Univ (Med Sci), 2021, 50(6): 685-693.
[3] MA Lijuan,WU Shuang,ZHANG Kai,TIAN Mei,ZHANG Hong. Progress on the application of positron emission tomography imaging of cannabinoid type 1 receptor in neuropsychiatric diseases[J]. J Zhejiang Univ (Med Sci), 2021, 50(5): 666-673.
[4] XUAN Zixue,ZHANG Yiwen,PAN Zongfu,ZHENG Xiaowei,HUANG Ping. Natural medicinal ingredients induce tumor ferroptosis and related mechanisms[J]. J Zhejiang Univ (Med Sci), 2021, 50(5): 601-606.
[5] QU Wenzheng,ZHUANG Yingliang,LI Xuekun. The roles of epigenetic modifications in neurodegenerative diseases[J]. J Zhejiang Univ (Med Sci), 2021, 50(5): 642-650.
[6] SUN Qi,CAO Wei,LUO Jianhong. The roles of GluN3-containing N-methyl-D-aspartate receptor in central nerve system[J]. J Zhejiang Univ (Med Sci), 2021, 50(5): 651-658.
[7] SHI Jianrong,MA Wangqian,TANG Huifang. Research progress of phosphodiesterase inhibitors in inflammatory bowel disease treatment[J]. J Zhejiang Univ (Med Sci), 2021, 50(5): 659-665.
[8] TANG Yue,KONG Yuanyuan. Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment[J]. J Zhejiang Univ (Med Sci), 2021, 50(4): 514-523.
[9] LIU Fei,FENG Chunyue,MAO Jianhua,FU Haidong. New-onset and relapsing glomerular diseases related to COVID-19 vaccination[J]. J Zhejiang Univ (Med Sci), 2021, 50(4): 524-528.
[10] HAN Lianshu. Genetic screening techniques and diseases for neonatal genetic diseases[J]. J Zhejiang Univ (Med Sci), 2021, 50(4): 429-435.
[11] HU Mangsha,WEI Shuli,ZHOU Wuyuan,WANG Pingli. Research progress on neonatal Fc receptor and its application[J]. J Zhejiang Univ (Med Sci), 2021, 50(4): 537-544.
[12] HU Jingyi,WANG Qingqing,LIU Yang. Research progress on proteasome subunits in regulating occurrence and development of hepatocellular carcinoma[J]. J Zhejiang Univ (Med Sci), 2021, 50(3): 396-402.
[13] GE Yingzhou,LIU Xinmei,HUANG Hefeng. Advances in the role of silence information regulator family in pathological pregnancy[J]. J Zhejiang Univ (Med Sci), 2021, 50(3): 335-344.
[14] WANG Jintao,HUANG Lei,WEI Lili,CHEN Wei. Factors affecting the efficacy of repetitive transcranial magnetic stimulation for patients with Alzheimer’s disease[J]. J Zhejiang Univ (Med Sci), 2021, 50(3): 383-389.
[15] ZHUANG Wenwen,YANG Yongqi,LI Hongliang,LIANG Jingyan. Research advance of Nrf2 on atherosclerosis by regulating vascular smooth muscle cell[J]. J Zhejiang Univ (Med Sci), 2021, 50(3): 390-395.