Genetic characterization of Y-chromosomal STRs in Hazara ethnic group of Pakistan and confirmation of DYS448 null allele
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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.
KeywordsForensic 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.
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.
- 1.Siddique A (2012) Afghanistan’s ethnic dividesGoogle Scholar
- 5.Jobling MA, Lo ICC, Turner DJ, Bowden GR, Lee AC, Xue Y, Carvalho-Silva D, Hurles ME, Adams SM, Chang YM, Kraaijenbrink T, Henke J, Guanti G, McKeown B, van Oorschot RAH, Mitchell RJ, de Knijff P, Tyler-Smith C, Parkin EJ (2007) Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. Hum Mol Genet 16:307–316. https://doi.org/10.1093/hmg/ddl465 CrossRefGoogle Scholar
- 7.Repping S, van Daalen SKM, Brown LG, Korver CM, Lange J, Marszalek JD, Pyntikova T, van der Veen F, Skaletsky H, Page DC, Rozen S (2006) High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 38:463–467. https://doi.org/10.1038/ng1754 CrossRefGoogle Scholar
- 8.Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Krüger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff P, Stoneking M, Sajantila A (2000) Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet 66:1580–1588. https://doi.org/10.1086/302905 CrossRefGoogle Scholar
- 11.Nei M (1997) Molecular evolutionary genetics. Columbia University Press, New YorkGoogle Scholar
- 13.R Core Team (2015) R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, AustriaGoogle Scholar
- 16.Zerjal T, Xue Y, Bertorelle G, Wells RS, Bao W, Zhu S, Qamar R, Ayub Q, Mohyuddin A, Fu S, Li P, Yuldasheva N, Ruzibakiev R, Xu J, Shu Q, du R, Yang H, Hurles ME, Robinson E, Gerelsaikhan T, Dashnyam B, Mehdi SQ, Tyler-Smith C (2003) The genetic legacy of the Mongols. Am J Hum Genet 72:717–721. https://doi.org/10.1086/367774 CrossRefGoogle Scholar