International Journal of Legal Medicine

, Volume 133, Issue 3, pp 799–802 | Cite as

Evaluation of 13 rapidly mutating Y-STRs in endogamous Punjabi and Sindhi ethnic groups from Pakistan

  • Atif AdnanEmail author
  • Allah Rakha
  • Shahid Nazir
  • Muhammad Farhan Khan
  • Sibte Hadi
  • Jinfeng XuanEmail author
Population Data


Y-chromosomal short tandem repeats (Y-STRs) are commonly used to study population histories, discover ancestral relationships, and identify males for criminal justice purposes. Y-STRs being largely in forensic use have low haplotype diversity in some populations and cannot discriminate between paternal male relatives. Rapidly mutating Y-STRs (RM Y-STRs) were breakthrough and have been paid much attention. A set of 13 rapidly mutating (RM) Y-STRs (DYF387S1, DYF399S1, DYF403S1a/b1/b2, DYF404S1, DYS449, DYS518, DYS526I/II, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627) typically reveals higher haplotype diversities than the commercially available Y-STR sets and allows differentiating male relatives for which commercial Y-STR sets are usually not informative. Here, we amplified the 13 RM Y-STRs in 168 (37 Sindhi and 131 Punjabi) individuals from Pakistani population, which is characterized by high rates of endogamy. The haplotype diversity and discrimination capacity were 1. Allelic frequencies ranged from 0.0060 to 0.5060, while gene diversity ranged from 0.6759 (DYS526a) to 0.9937 (DYF399S1). A total 319 different alleles were observed. Results of our study showed that RM Y-STRs provided substantially stronger discriminatory power in Pakistani populations.


RM Y-STRs Paternal lineage Endogamous Punjabi Sindhi Pakistan 


Funding information

This study was financially supported by the University Health Sciences Lahore Pakistan and China Medical University Shenyang China.

Compliance with ethical standards

All participants gave their informed consent in writing after the study aims and procedures were carefully explained to them in their own language. Collaborative study was approved by the ethical review boards of the University of Health Sciences Lahore Pakistan and China Medical University, Shenyang Liaoning Province, People’s Republic of China and in accordance with the standards of the Declaration of Helsinki.

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

414_2018_1997_MOESM1_ESM.xlsx (28 kb)
Supplementary Table 1 The haplotype distributions and haplotype frequencies of Sindhi (Pak_S_1–37) and Punjabi (Pak_P_38–168) populations from Pakistan (n = 168). (XLSX 27 kb)
414_2018_1997_MOESM2_ESM.xlsx (17 kb)
Supplementary Table 2 Allelic frequencies and GD values of 13 RM Y STRs in Pakistani population together (XLSX 16 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

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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