3 research outputs found
A global analysis of Y-chromosomal haplotype diversity for 23 STR loci
In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.Peer reviewe
Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
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%). Analysi
Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
Relevant for various areas of human genetics,
Y-chromosomal short tandem repeats (Y-STRs) are com-
monly used for testing close paternal relationships among
individuals and populations, and for male lineage iden-
tification. 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. Strik-
ingly, >99% of the 12,272 unrelated males were com-
pletely individualized. Haplotype diversity was extremely
high (global: 0.9999985, regional: 0.99836\u20130.9999988).
Haplotype sharing between populations was almost ab-
sent except for six (0.05%) of the 12,156 haplotypes.
Haplotype sharing within populations was generally rare
(0.8% nonunique haplotypes), significantly lower in ur-
ban (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\u2013son pairs. Relative to Yfiler, haplotype diversity
was increased in 86% of the populations tested and over-
all 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