International Journal of Legal Medicine

, Volume 133, Issue 3, pp 789–793 | Cite as

Genetic characterization of Y-chromosomal STRs in Hazara ethnic group of Pakistan and confirmation of DYS448 null allele

  • Atif AdnanEmail author
  • Allah Rakha
  • Kadirya Kasim
  • Anam Noor
  • Shahid Nazir
  • Sibte Hadi
  • Hao PangEmail author
Population Data


Pakistan harbors 18 major ethnic groups and Hazara is one of the distinct but smaller groups comprising 0.090% of the total population. Hazara individuals have typical Mongolian facial features and they claim to be descendants of Genghis Khan’s army in the first quarter of the thirteenth century AD. In this study, we genotyped 153 unrelated males living in Quetta, Baluchistan, Pakistan, for a total of 26 (n = 153) to 30 (n = 47) Y-chromosomal STR loci. One hundred forty unique haplotypes were developed for Hazara population using the PowerPlex Y23 loci. The Y-STR locus showed a genetic diversity ranging from 0.2384 to 0.7918, and an overall discrimination capacity (DC) of 91.5%. The Hazara population samples were profiled for three additional Y-STRs (DYS388, DYS449 and DYS460), which increased the number of unique haplotypes to 144 while the DC increased to 94.11% in Hazara Population of Pakistan. Interestingly, null alleles were observed at DYS448 in 25 individuals of Hazara population. The Hazaras showed significant differences from other local populations of Pakistan as well as neighboring populations, but had considerable genetic affinities to Kazakhs and Mongols.


Forensic genetics Goldeneye® 26Y system Hazara, Quetta, Baluchistan, Pakistan Haplotype structure Y-chromosomal STR 



We are very grateful to the volunteers in our study, in particular Mannis Van Ovan, Muhammad Farhan, Ammar Sabir Cheema, Xiaoni Zhan, and Fatima.

Funding information

This project is supported by the National Natural Science Foundation of P. R. China (NSFC, No. 81471826).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no competing interests.

Supplementary material

414_2018_1962_MOESM1_ESM.jpg (193 kb)
Supplementary Figure S1 Neighbour-joining phylogenetic tree of the Hazara population and the Central Asia, South Asia, Russia and East Asian populations based on a distance matrix of Rst. (JPG 193 kb)
414_2018_1962_MOESM2_ESM.jpg (51 kb)
Supplementary Figure S2 The median joining network of Hazara population of Pakistan based on 23 Y STR (JPG 51 kb)
414_2018_1962_MOESM3_ESM.jpg (229 kb)
Supplementary Figure S3A Null types at DYS448 were observed from 25 to 26 individuals based on 3 different kits (GoldenEye Y 26, Microreader Y 29 and Yfiler Plus) (JPG 228 kb)
414_2018_1962_MOESM4_ESM.jpg (903 kb)
Supplementary Figure S3B (JPG 902 kb)
414_2018_1962_MOESM5_ESM.docx (18 kb)
Supplementary Table S1 Primers information, reaction and sequencing conditions for null DYS448 (DOCX 17 kb)
414_2018_1962_MOESM6_ESM.xlsx (38 kb)
Supplementary Table S2 The haplotype distributions and haplotype frequencies of Hazara population from Pakistan (n = 153). (XLSX 38 kb)
414_2018_1962_MOESM7_ESM.xlsx (15 kb)
Supplementary Table S3 Allele Frequencies of Hazara population of Pakistan on 30 Y-STRs (XLSX 14 kb)
414_2018_1962_MOESM8_ESM.xlsx (14 kb)
Supplementary Table S4 Pairwise Rst values between Hazara Population of Pakistan and other 27 reference populations (XLSX 14 kb)
414_2018_1962_MOESM9_ESM.xlsx (10 kb)
Supplementary Table S5 Frequencies of null allele at DYS448 in various ethnic groups across continents (XLSX 10 kb)
414_2018_1962_MOESM10_ESM.docx (34 kb)
Supplementary Table S6 Sequence in the relevant flanking and repeat region of the DYS448 locus for normal and null alleles (DOCX 34 kb)


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Copyright information

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

Authors and Affiliations

  1. 1.Department of Forensic Genetics and Biology, School of Forensic MedicineChina Medical UniversityShenyangPeople’s Republic of China
  2. 2.Department of Forensic SciencesUniversity of Health Sciences LahoreLahorePakistan
  3. 3.School of Forensic and Investigative SciencesUniversity of Central LancashirePrestonUK

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