Toward male individualization with rapidly mutating y‐chromosomal short tandem repeats

Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are com monly used for testing close paternal relationships among individuals and populations, and for male lineage iden tification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strik ingly, >99% of the 12,272 unrelated males were com pletely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836–0.9999988). Haplotype sharing between populations was almost ab sent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in ur ban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father–son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and over all male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database.

Keywords

Y-chromosome Y-STRs Haplotypes RM YSTRs Paternal lineage Forensic . Faculdade de Ciências da Vida

URI

http://hdl.handle.net/10400.13/4118

Citation

Ballantyne, K. N., Ralf, A., Aboukhalid, R., Achakzai, N. M., Anjos, M. J., Ayub, Q., ... & Kayser, M. (2014). Toward male individualization with rapidly mutating y‐chromosomal short tandem repeats. https://doi.org/10.1002/humu.22599, 35(8), 1021-1032. https://doi.org/10.1002/humu.22599