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Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
Erasmus MC University, Netherlands Victoria Police Forens Serv Department, Australia .
Erasmus MC University, Netherlands .
Mohammed V Agdal University, Morocco .
University of Punjab, Pakistan .
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2014 (English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 35, no 8, 1021-1032 p.Article in journal (Refereed) Published
Abstract [en]

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, greater than99% 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.

Place, publisher, year, edition, pages
John Wiley & Sons, 2014. Vol. 35, no 8, 1021-1032 p.
Keyword [en]
Y-chromosome; Y-STRs; haplotypes; RM Y-STRs; paternal lineage; forensic
National Category
Forensic Science Cell and Molecular Biology
URN: urn:nbn:se:liu:diva-109584DOI: 10.1002/humu.22599ISI: 000339431600016PubMedID: 24917567OAI: diva2:739466
Available from: 2014-08-21 Created: 2014-08-21 Last updated: 2015-08-12

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Holmlund, GunillaTillmar, Andreas
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