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Intra- and inter-population analysis of haplotype diversity in Yfiler® Plus system using a wide set of representative data from Polish population

Published:January 27, 2017DOI:https://doi.org/10.1016/j.fsigen.2017.01.014
      Microsatellite loci in human Y chromosome (Y-STRs) proved to be efficient tools in population genetics and forensics [
      • Roewer L.
      Y chromosome STR typing in crime casework.
      ,
      • Ballantyne K.N.
      • Kayser M.
      Additional Y-STRs in forensics: why, which, and when.
      ]. Many multiplex amplification systems were developed that aid in fast and reliable Y-STR haplotyping [
      • Mayntz-Press K.A.
      • Ballantyne J.
      Performance characteristics of commercial Y-STR multiplex systems.
      ,
      • Thompson J.M.
      • Ewing M.M.
      • Frank W.E.
      • Pogemiller J.J.
      • a. Nolde C.
      • Koehler D.J.
      • et al.
      Developmental validation of the PowerPlex™ Y23 System: a single multiplex Y-STR analysis system for casework and database samples.
      ,
      • Rogalla U.
      • Wozniak M.
      • Swobodzinski J.
      • Derenko M.
      • Malyarchuk B.A.
      • Dambueva I.
      • et al.
      A novel multiplex assay amplifying 13 Y-STRs characterized by rapid and moderate mutation rate.
      ]. A continuous trend of increasing the number of loci typed is apparent in the history of commercially available Y-STR kits. Yfiler Plus developed by Applied Biosystems is a recent addition to the set of kits available on the market. The system allows amplification of 27 Y-STR loci, comprising a standard set of so called “minimal haplotype” markers (as defined in the YHRD database) as well as additional markers, including those characterized by fast mutation rate [
      • Gopinath S.
      • Zhong C.
      • Nguyen V.
      • Ge J.
      • Lagacé R.E.
      • Short M.L.
      • Mulero J.J.
      Developmental validation of the Yfiler® Plus PCR Amplification Kit: an enhanced Y-STR multiplex for casework and database applications.
      ]. To take full advantage of the increased resolution of Y chromosome haplotype analysis offered by the Yfiler® Plus, it is necessary to collect population frequency data for as many population samples as possible. However, due to the relative novelty of the Yfiler Plus system, only limited set of population data is currently available [
      • Pickrahn I.
      • Müller E.
      • Zahrer W.
      • Dunkelmann B.
      • Cemper-Kiesslich J.
      • Kreindl G.
      • Neuhuber F.
      Yfiler® Plus amplification kit validation and calculation of forensic parameters for two Austrian populations.
      ,
      • Rapone C.
      • D’Atanasio E.
      • Agostino A.
      • Mariano M.
      • Papaluca M.T.
      • Cruciani F.
      • Bertia A.
      Forensic genetic value of a 27 Y-STR loci multiplex (Yfiler® Plus kit) in an Italian population sample.
      ,
      • Olofsson J.K.
      • Mogensen H.S.
      • Buchard A.
      • Borsting C.
      • Morling N.
      Forensic and population genetic analyses of Danes, Greenlanders and Somalis typed with the Yfiler® Plus PCR amplification kit.
      ,
      • Ottaviani E.
      • Vernarecci S.
      • Asili P.
      • Agostino A.
      • Montagna P.
      Preliminary assessment of the prototype Yfiler® Plus kit in a population study of Northern Italian males.
      ,
      • García O.
      • Yurrebaso I.
      • Mancisidor I.D.
      • López S.
      • Alonso S.
      • Gusmão L.
      Data for 27 Y-chromosome STR loci in the basque country autochthonous population.
      ,
      • Wang Y.
      • Zhang Y.-J.
      • Zhang C.-C.
      • Li R.
      • Yang Y.
      • Ou X.-L.
      • et al.
      Genetic polymorphisms and mutation rates of 27 Y-chromosomal STRs in a Han population from Guangdong province, southern China.
      ,
      • Oh Y.N.
      • Lee H.Y.
      • Lee E.Y.
      • Kim E.H.
      • Yang W.I.
      • Shin K.-J.
      Haplotype and mutation analysis for newly suggested Y-STRs in Korean father-son pairs.
      ].
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