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Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR (R) Yfiler (R) PCR amplification kit
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2009 (English)In: International journal of legal medicine (Print), ISSN 0937-9827, E-ISSN 1427-1596, Vol. 123, no 6, 471-482 p.Article in journal (Refereed) Published
Abstract [en]

The Y-chromosomal short tandem repeat (YSTR) polymorphisms included in the AmpFlSTR (R) Yfiler (R) polymerase chain reaction amplification kit have become widely used for forensic and evolutionary applications where a reliable knowledge on mutation properties is necessary for correct data interpretation. Therefore, we investigated the 17 Yfiler Y-STRs in 1,730-1,764 DNA-confirmed father-son pairs per locus and found 84 sequence-confirmed mutations among the 29,792 meiotic transfers covered. Of the 84 mutations, 83 (98.8%) were single-repeat changes and one (1.2%) was a double-repeat change (ratio, 1:0.01), as well as 43 (51.2%) were repeat gains and 41 (48.8%) repeat losses (ratio, 1:0.95). Medians from Bayesian estimation of locus-specific mutation rates ranged from 0.0003 for DYS448 to 0.0074 for DYS458, with a median rate across all 17 Y-STRs of 0.0025. The mean age (at the time of son's birth) of fathers with mutations was with 34.40 (+/-11.63) years higher than that of fathers without ones at 30.32 (+/-10.22) years, a difference that is highly statistically significant (p<0.001). A Poisson-based modeling revealed that the Y-STR mutation rate increased with increasing father's age on a statistically significant level (alpha=0.0294, 2.5% quantile=0.0001). From combining our data with those previously published, considering all together 135,212 meiotic events and 331 mutations, we conclude for the Yfiler Y-STRs that (1) none had a mutation rate of >1%, 12 had mutation rates of >0.1% and four of <0.1%, (2) single-repeat changes were strongly favored over multiple-repeat ones for all loci but 1 and (3) considerable variation existed among loci in the ratio of repeat gains versus losses. Our finding of three Y-STR mutations in one father-son pair (and two pairs with two mutations each) has consequences for determining the threshold of allelic differences to conclude exclusion constellations in future applications of Y-STRs in paternity testing and pedigree analyses.

Place, publisher, year, edition, pages
2009. Vol. 123, no 6, 471-482 p.
Keyword [en]
Y-STR, Mutation, Microsatellites, Y-chromosome, AmpFlSTR YFiler kit
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-127455DOI: 10.1007/s00414-009-0342-yISI: 000271071100004OAI: oai:DiVA.org:uu-127455DiVA: diva2:330100
Available from: 2010-07-14 Created: 2010-07-13 Last updated: 2010-07-14Bibliographically approved

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