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Comprehensive mutat...
Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR (R) Yfiler (R) PCR amplification kit
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Goedbloed, Miriam (author)
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Vermeulen, Mark (author)
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Fang, Rixun N. (author)
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- Lembring, Maria (author)
- Uppsala universitet,Institutionen för genetik och patologi
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Wollstein, Andreas (author)
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Ballantyne, Kaye (author)
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Lao, Oscar (author)
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Brauer, Silke (author)
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Krueger, Carmen (author)
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Roewer, Lutz (author)
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Lessig, Ruediger (author)
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Ploski, Rafal (author)
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Dobosz, Tadeusz (author)
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Henke, Lotte (author)
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Henke, Juergen (author)
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Furtado, Manohar R. (author)
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Kayser, Manfred (author)
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(creator_code:org_t)
- 2009-03-26
- 2009
- English.
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In: International journal of legal medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 123:6, s. 471-482
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https://link.springe...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- 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.
Keyword
- Y-STR
- Mutation
- Microsatellites
- Y-chromosome
- AmpFlSTR YFiler kit
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Goedbloed, Miria ...
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Vermeulen, Mark
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Fang, Rixun N.
-
Lembring, Maria
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Wollstein, Andre ...
-
Ballantyne, Kaye
-
show more...
-
Lao, Oscar
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Brauer, Silke
-
Krueger, Carmen
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Roewer, Lutz
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Lessig, Ruediger
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Ploski, Rafal
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Dobosz, Tadeusz
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Henke, Lotte
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Henke, Juergen
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Furtado, Manohar ...
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Kayser, Manfred
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show less...
- Articles in the publication
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International jo ...
- By the university
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Uppsala University