U.S. flag

An official website of the United States government, Department of Justice.

NCJRS Virtual Library

The Virtual Library houses over 235,000 criminal justice resources, including all known OJP works.
Click here to search the NCJRS Virtual Library

Improving Global and Regional Resolution of Male Lineage Differentiation by Simple Single-Copy Y-Chromosomal Short Tandem Repeat Polymorphisms

NCJ Number
228337
Journal
Forensic Science International: Genetics Volume: 3 Issue: 4 Dated: September 2009 Pages: 205-213
Author(s)
Mark Vermeulen; Andreas Wollstein; Kristiann van der Gaag; Oscar Lao; Yali Xue; Oiuju Wang; Lutz Roewer; Hans Knoblauch; Chris Tyler-Smith; Peter de Knijff; Manfred Kayser
Date Published
September 2009
Length
9 pages
Annotation
Using genetic data for 590 males from 51 populations belonging to 8 worldwide regions, this study determined a way to improve global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat (STR) polymorphisms.
Abstract
The findings demonstrated that single-copy Y-STRs are useful for maximizing global and regional resolution of male lineages, either as a new set, or when added to commonly used Y-STR sets. Support was provided for their application to forensic, genealogical, and anthropological studies. Although autonomic DNA profiling provided no evidence for close relationships, the study found 18 Y-STR haplotypes (defined by 67 Y-STRs) that were shared by 2 to 5 men in 13 worldwide populations, revealing high and widespread levels of cryptic male relatedness. Maximal (95.9 percent) haplotype resolution was achieved with the best 25 out of 67 Y-STRs in the global dataset, and with the best 3-16 markers in regional datasets (89.6-100 percent resolution). From the 49 rarely studied single-copy Y-STRs, the 25 most informative markers were sufficient to reach the highest possible male lineage differentiation in the global (92.2 percent resolution), and 3-15 markers in the regional datasets (85.4-100 percent). Significantly lower haplotype resolutions were obtained with the three commonly used Y-STR sets (Minimalal Haplotype, PowerPlex Y, and AmpFlSter Y filer). Six single-copy Y-STRs (DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) were most informative in supplementing the existing Y-STR kits for increasing haplotype resolution, or - together with additional single-copy Y-STRs - as a new set for maximizing male lineage differentiation. Mutation rates of the 49 single-copy Y-STRs were estimated from 403 meiotic transfers in deep-rooted pedigrees, and ranged from ~4.8 x 10 to the minus-4 power for 31 single-copy Y-STRs with no mutations observed to 1.3 x 10 to the minus-2 power and 1.5 x 10 to the minus-2 power for DYS570 and DYS576, respectively. The latter represented the highest mutation rates reported for human Y-STRs so far. 3 tables, 5 figures, and 25 references