|Title: ||Towards complete male individualization with rapidly mutating Y-chromosomal STRs|
|Authors: ||Ballantyne, K.N. ×|
de Carvalho, E.F.
de Knijff, Peter
de Ungria, M.
van der Gaag, K.
Zupanic Pajnic, I.
Kayser, M. #
|Issue Date: ||2014 |
|Publisher: ||John Wiley & Sons, Inc.|
|Series Title: ||Human Mutation vol:35 issue:8 pages:1021-1032|
|Abstract: ||Relevant for various areas of human genetics,
Y-chromosomal short tandem repeats (Y-STRs) are commonly
used for testing close paternal relationships among
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 the 12,272 unrelated males were completely
individualized. Haplotype diversity was extremely
high (global: 0.9999985, regional: 0.99836–0.9999988).
Haplotype sharing between populations was almost absent
except for six (0.05%) of the 12,156 haplotypes.
Haplotype sharing within populations was generally rare
(0.8% nonunique haplotypes), significantly lower in urban
(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 overall
male relative differentiation was raised by 23.5%. Our
study demonstrates the value of RMY-STRs in identifying
and separating unrelated and related males and provides a
|Publication status: ||published|
|KU Leuven publication type: ||IT|
|Appears in Collections:||Forensic Biomedical Sciences |