Naslov
Towards male individualization with rapidly mutating Y-chromosomal STRs

Autori
Ballantyne, K.N. ; ... ; Balažić, J. ; ... ; Kovačević, Lejla ; ... ; Marjanović, Damir ; ... ; Onofri, Vladimir ; ... ; Primorac, Dragan ; ... ; Sharma, Anil K. ; ... ; Škaro, Vedrana ; ... ; Kayser, Manfred

Izvornik
Human mutation (1059-7794) 35 (2014), 8; 1021-1032

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Y-chromosome ; Y-STRs ; Rapidly mutating Y-STRs ; RM Y-STRs ; haplotypes ; microsatellites ; male lineage differentiation ; male relative differentiation ; paternal relationship ; forensic

Sažetak
Relevant for various areas of human genetics, Y- chromosomal STRs (Y-STRs) are commonly used for testing close paternal relationships amongst individuals and populations, and for male lineage identification. 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. Strikingly, >99% of 12, 272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99919- 0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of 12, 156 haplotypes. Haplotype sharing within populations was generally rare (0.8% non-unique haplotypes), was significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). AMOVA revealed 99.98% ofvariation 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 separated by 1-20 generations, 29% were differentiated including 27% of 2, 378 fathers/son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of populations tested ; overall 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.

Izvorni jezik
Engleski

Znanstvena područja
Biologija

POVEZANOST RADA