Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay

Abstract

Y-chromosomal STR haplotypes were determined from a sample of 135 unrelated men and 70 sons from Tirol (Austria) using the AmpFlSTR Yfiler PCR amplification kit (Applied Biosystems) that coamplifies 17 YSTRs. The panel of markers includes the 9-loci European minimal haplotype (minHt) and, in addition, the markers DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 (Y GATA C4) and Y GATA H4. A total of 130 different haplotypes (125 were unique) were identified by the 17 Y-STR markers, an increase of 19 compared with the minHt. The gene diversity of DYS635, DYS456 and DYS458 exceeded 0.75 and only that of the duplicated marker DYS385 (0.86) was higher. Consistently high haplotype diversity values were found in all tested Y-SNP haplogroups. Because the simultaneous analysis of 17 Y-STR systems offers a high power of discrimination at minimum sample consumption, the Yfiler kit is a promising tool for forensic applications.

Analysis of mutations in father–son pairs with 17 Y-STR loci

“…Paternity was confirmed by the paternity index value of 5.2 Â 10 3 for 45A and 2.6 Â 10 3 for 52A in the Asian population when the mothers' alleles are included. Thus far, in the four other published studies describing mutation rates with the 17 Yfiler loci [5][6][7][8] there have been no reports of a double mutation or a two repeat loss within a single father/son sample pair. However, previous studies involving fewer Y-STR loci have identified more than one mutation in a father/son pair.…”

“…In Table 3, we report the most current mutation rate information available on the 17 Y-STR loci in the Yfiler TM kit, as this will be important for laboratories using this technology. The final mutation rates for the Y-STR loci were determined by pooling the data in this study with mutation rate data provided by the Y Chromosome Haplotype Reference Database (YHRD) www.YHRD.org, published articles and papers in press [5][6][7][8][13][14][15][16][17]. Haplotype information for the 778 samples considered in this study across the 17 Yfiler loci is available in Supplementary material in Table S1.…”

“…Reliable estimations of mutation rates for these loci are a valuable asset to assist in the interpretation of Y-STR test results [4]. While there are a large number of articles reporting mutation rates for the minimal haplotype loci, only a few articles [5][6][7][8] have reported results with the 17 Y-STR loci in the AmpF'STR 1 Yfiler TM PCR amplification kit (Applied Biosystems, Foster City, CA). These studies primarily involved samples from populations outside of the U.S.…”

A Perspective on the History of the Iberian Gypsies Provided by Phylogeographic Analysis of Y‐Chromosome Lineages

“…Three of the shared haplotypes were very well represented (H18-7.9%; H21-15.9% and H24-13.5%) reaching unusually high values in comparison to those found in most populations for lineages defined by such a high number of Y-STRs (e.g. Alves et al 2007;Turrina et al 2006;Berger et al 2005;Soltyszewski et al 2007). In most European populations haplotype diversity is higher than 99.9%, in contrast with the low value now detected in the Portuguese Gypsies (0.9437 ± 0.0107).…”

Low volume amplification and sequencing of mitochondrial DNA on a chemically structured chip

“…Therefore, alternative techniques need to be applied. For instance, deficiency cases can be solved by sequence analysis of the mitochondrial control region or by analysis of Y-chromosome and X-chromosome specific STRs [4,7,19,26,27]. If only highly degraded DNA is available for analysis, typing of single nucleotide polymorphisms (SNPs) can be the method of choice [24].…”