Towards male individualization with rapidly mutating Y-chromosomal STRs

Autor: Ballantyne, K.N., Balažić, J., Kovačević, Lejla, Marjanović, Damir, Onofri, Vladimir, Primorac, Dragan, Sharma, Anil K., Škaro, Vedrana, Kayser, Manfred
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Popis: 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.
Databáze: OpenAIRE