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
• Publication Format: Article
• Publication Type: Report (Study/Research)
• Language: English
• Country: Ireland

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