Title: Towards complete male individualization with rapidly mutating Y-chromosomal STRs
Authors: Ballantyne, K.N. ×
Ralf, A.
Aboukhalid, R.
Achakzai, N.M.
Anjos, M.J.
Ayub, Q.
Balažic, J.
Ballantyne, J.
Ballard, D.J.
Berger, B.
Bobillo, C.
Bouabdellah, M.
Burri, H.
Butler, J.
Capal, T.
Caratti, S.
Carracedo, A.
Cartault, F.
Carvalho, E.F.
Cheng, B.
Coble, M.D.
Comas, D.
Corach, D.
D'Amato, M.E.
Davison, S.
de Carvalho, E.F.
de Knijff, Peter
de Ungria, M.
Decorte, Ronny
Dobosz, T.
Dupuy, B.M.
Elmrghni, S.
Gliwinski, M.
Gomes, S.C.
Grol, L.
Haas, C.
Hanson, E.
Henke, J.
Hill, C.R.
Holmlund, G.
Honda, K.
Immel, U.
Inoue, S.
Jobling, M.A.
Kaddura, M.
Kim, J.S.
Kim, S.H.
Kim, W.
King, T.E.
Klausriegler, E.
Kling, D.
Kovacevic, L.L.
Kovatsi, L.
Krajewski, P.
Kravchenko, S.
Larmuseau, Maarten
Lee, E.Y.
Lee, S.H.
Lessig, R.
Livshits, L.A.
Marjanovic, D.
Minarik, M.
Mizuno, N.
Moreira, H.
Morling, N.
Mukherjee, M.
Nagaraju, J.
Neuhuber, F.
Nie, S.
Nilasitsataporn, P.
Nishi, T.
Oh, H.H.
Olofsson, J.
Onofri, V.
Palo, J.U.
Pamjav, H.
Parson, W.
Payet, C.
Petlach, M.
Phillips, C.
Ploski, R.
Prasad, S.P.R.
Primorac, D.
Purnnomo, G.A.
Purps, J.
Rangel, H.
Rebala, K.
Rerkamnuaychoke, B.
Rey, D.
Robino, C.
Rodríguez, F.
Roewer, L.
Rosa, A.
Sajantila, A.
Sala, A.
Salvador, J.
Sanz, P.
Schmitt, C.
Sharma, A.K.
Silva, D.A.
Shin, K.J.
Sijen, T.
Sirker, M.
Siváková, D.
Skaro, V.
Solano-Matamoros, C.
Souto, L.
Stenzl, V.
Sudoyo, H.
Syndercombe-Court, D.
Tagliabracci, A.
Taylor, D.
Tillmar, A/
Tsybovsky, I.S.
Tyler-Smith, C.
van der Gaag, K.
Vanek, D.
Völgyi, A.
Ward, D.
Willemse, P.
Winkler, C.
Yap, E.P.H.
Yong, R.Y.Y.
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
reference database.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Forensic Biomedical Sciences
× corresponding author
# (joint) last author

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