International Journal of Legal Medicine

, Volume 133, Issue 4, pp 983–988 | Cite as

Identifying novel microhaplotypes for ancestry inference

  • Peng ChenEmail author
  • Wenjia Zhu
  • Fang Tong
  • Yan Pu
  • Youjia Yu
  • Shuainan Huang
  • Zheng Li
  • Lin Zhang
  • Weibo LiangEmail author
  • Feng ChenEmail author
Short Communication


The use of DNA to determine the ancestry of an individual is becoming more and more important in the areas of forensics. Kidd et al. (Forensic Sci Int Genet 12:215–224, 2014) have been the first to identify and catalog haplotypes, termed as minihaplotypes (1–10-kilobase spans) and microhaplotypes (≤ 200 bp), with potential use in forensic analysis. In the present study, we selected 10 short ancestry informative microhaplotypes by calculating the informativeness (In) according to Rosenberg et al. (Am J Hum Genet 73(6):1402–1422, 2003). In total, 2504 individuals from 26 populations in 1000 Genomes Project database Phase 3 were enrolled. Among the studied microhaplotypes, eight of them are comprised of 3 SNPs while two microhaplotypes are made up of 4 SNPs. The size (molecular extent) range of 10 microhaplotypes is 5 to 48 bp with an average of 31.4 bp. The heterozygosity value ranges from 0.2235 to 0.8958 with an average of 0.6593. The average power of discrimination (PD) values is 0.7944 and ranges from 0.3786 to 0.9242. Analyses of this dataset provided clear differentiation of the populations from the Africa, East Asia, South Asia, and Europe biogeographic regions. However, individuals from American ancestry were not well separated. To conclude, our results revealed the significance of using microhaplotypes as an ancestry informative marker. The present panel could offer a valid complementary tool in forensic applications.


Microhaplotype Ancestry SNP Ancestry informative marker 


Funding information

This work was supported by the National Natural Science Foundation of China (No.81570378, No.81772020), the Science and Technology of Jiangsu Province China (BK20170048), and Jiangsu Specially-Appointed Professor program.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

414_2018_1881_MOESM1_ESM.docx (489 kb)
ESM 1 (DOCX 488 kb)
414_2018_1881_MOESM2_ESM.xlsx (22 kb)
ESM 2 (XLSX 22 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Forensic MedicineNanjing Medical UniversityNanjingPeople’s Republic of China
  2. 2.School of Life ScienceNanjing Normal UniversityNanjingPeople’s Republic of China
  3. 3.Department of Forensic MedicineTongji Medical College of Huazhong University of Science and TechnologyWuhanPeople’s Republic of China
  4. 4.School of MedicineSoutheast UniversityNanjingPeople’s Republic of China
  5. 5.Department of Forensic Biology, West China School of Basic Sciences and Forensic MedicineSichuan UniversityChengduPeople’s Republic of China

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