Haplotype diversity and phylogenetic characteristics for Guanzhong Han population from Northwest China via 38 Y-STRs using Yfiler™ Platinum Amplification System

Mol Genet Genomic Med. 2020 May;8(5):e1187. doi: 10.1002/mgg3.1187. Epub 2020 Mar 12.


Background: For better application in human forensic cases and population genetics research, it is imperative to investigate the genetic characteristics of Guanzhong Han population using enhanced Y-chromosomal short tandem repeats (Y-STR) detecting system with higher discriminating power than previous ones.

Methods: In this study, 38 Y-STRs were profiled in 430 unrelated Chinese Han male individuals from Guanzhong region of Shaanxi Province, Northwest China, using the Yfiler™ Platinum PCR Amplification Kit. Haplotype frequencies and forensic parameters were calculated. Comprehensive population comparisons with geographically/ethnically different populations in China and other worldwide countries were performed.

Results: A total of 422 different haplotypes were observed with the overall haplotype diversity (HD), discriminatory power (DC) and haplotype match probability (HMP) were 0.9999, 0.9814, and 0.0024, respectively. Guanzhong Han showed genetically affinity with Han ethnicity from Shanxi and Henan provinces, while far distant from Tibetan populations.

Conclusion: This study offered a unique insight into Guanzhong Han population, the 38 Y-STRs included in the the Yfiler™ Platinum system are highly polymorphic and informative and can be used for forensic practice and human genetic research.

Keywords: Guanzhong Han population; Y-chromosomal STR; Yfiler™ Platinum system; forensic genetics; genetic diversity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • China
  • Chromosomes, Human, Y / genetics*
  • Ethnicity / genetics
  • Forensic Genetics / methods
  • Genotyping Techniques / methods
  • Haplotypes*
  • Humans
  • Male
  • Microsatellite Repeats
  • Phylogeny
  • Polymorphism, Genetic
  • Population / genetics*