| Title: |
Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpF lSTR® Yfiler® PCR amplification kit |
| Authors: |
Goedbloed, M.A. (Miriam); Vermeulen, M. (Mark); Fang, R.N. (Rixun); Lembring, M. (Maria); Wollstein, A. (Andreas); Ballantyne, K. (Kaye); Lao Grueso, O. (Oscar); Brauer, S. (Silke); Krüger, C. (Carmen); Roewer, L. (Lutz); Lessig, R. (Rüdiger); Ploski, R. (Rafal); Dobosz, T. (Tadeusz); Henke, J. (Jürgen); Furtado, M.R. (Manohar); Kayser, M.H. (Manfred) |
| Source: |
International Journal of Legal Medicine (Print) vol. 123 no. 6, pp. 471-482 |
| Publication Year: |
2009 |
| Collection: |
RePub - Publications from Erasmus University, Rotterdam |
| Subject Terms: |
AmpFlSTR YFiler kit; Microsatellites; Mutation; Y-STR; Y-chromosome |
| Description: |
The Y-chromosomal short tandem repeat (Y-STR) polymorphisms included in the AmpF lSTR® Yfiler® 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 (α=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 |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
https://repub.eur.nl/pub/16230; urn:hdl:1765/16230 |
| DOI: |
10.1007/s00414-009-0342-y |
| Availability: |
https://repub.eur.nl/pub/16230; https://doi.org/10.1007/s00414-009-0342-y |
| Accession Number: |
edsbas.14FBC5A |
| Database: |
BASE |