title: A novel multiplex assay amplifying 13 Y-STRs characterized by rapid and moderate mutation rate.
abstract: As microsatellites located on Y chromosome mutate with different rates, they may be exploited in evolutionary studies, genealogical testing of a variety of populations and even, as proven recently, aid individual identification. Currently available commercial Y-STR kits encompass mostly low to moderately mutating loci, making them a perfect choice for the first two applications. Some attempts have been made so far to utilize Y-STRs to provide a discriminatory tool for forensic purposes. Although all 13 rapidly mutating Y-STRs were already multiplexed, no single assay based on single-copy markers allowing at least a portion of close male relatives to be differentiated from one another is available. To fill in the blanks, we constructed and validated an assay comprised of single-copy Y-STR markers only with a mutation rate ranging from 8×10(-3) to 1×10(-2). Performance of the resulting combination of nine RM Y-STRs and four moderately mutating ones was tested on 361 father-son pairs and 1326 males from 9 populations revealing an overall mutation rate of 1.607×10(-1) for the assay as a whole. Application of the proposed 13 Y-STR set to differentiation of haplotypes present among homogenous population of Buryats resulted in a threefold increase of discrimination as compared with 10 Y-STRs from the PowerPlex(®) Y.
authors.affiliation: Institute of Molecular and Forensic Genetics, Nicolaus Copernicus University, Collegium Medicum in Bydgoszcz, M. Sklodowskiej-Curie 9, 85-094 Bydgoszcz, Poland. Electronic address: urszula.rogalla@cm.umk.pl.
authors.forename: Urszula
authors.initials: U
authors.lastname: Rogalla
authors.affiliation: Institute of Molecular and Forensic Genetics, Nicolaus Copernicus University, Collegium Medicum in Bydgoszcz, M. Sklodowskiej-Curie 9, 85-094 Bydgoszcz, Poland. Electronic address: marcinw@cm.umk.pl.
authors.forename: Marcin
authors.initials: M
authors.lastname: Woźniak
authors.affiliation: Institute of Molecular and Forensic Genetics, Nicolaus Copernicus University, Collegium Medicum in Bydgoszcz, M. Sklodowskiej-Curie 9, 85-094 Bydgoszcz, Poland. Electronic address: jswobodzinski@gmail.com.
authors.forename: Jacek
authors.initials: J
authors.lastname: Swobodziński
authors.affiliation: Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Portovaya str. 18, Magadan 685000, Russia. Electronic address: mderenko@mail.ru.
authors.forename: Miroslava
authors.initials: M
authors.lastname: Derenko
authors.affiliation: Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Portovaya str. 18, Magadan 685000, Russia. Electronic address: malyarchuk@ibpn.ru.
authors.forename: Boris A
authors.initials: BA
authors.lastname: Malyarchuk
authors.affiliation: Institute of General and Experimental Biology, Institute of Mongolian, Buddhist and Tibetan Studies Russian Academy of Sciences, Ulan-Ude, Russia. Electronic address: irina@pres.bscnet.ru.
authors.forename: Irina
authors.initials: I
authors.lastname: Dambueva
authors.affiliation: Department of Cardiology and Internal Disease, Nicolaus Copernicus University, Collegium Medicum in Bydgoszcz, M. Skłodowskiej-Curie 9, 85-094 Bydgoszcz, Poland. Electronic address: marekkozinski@wp.pl.
authors.forename: Marek
authors.initials: M
authors.lastname: Koziński
authors.affiliation: Department of Cardiology and Internal Disease, Nicolaus Copernicus University, Collegium Medicum in Bydgoszcz, M. Skłodowskiej-Curie 9, 85-094 Bydgoszcz, Poland. Electronic address: jkubica@cm.umk.pl.
authors.forename: Jacek
authors.initials: J
authors.lastname: Kubica
authors.affiliation: Institute of Molecular and Forensic Genetics, Nicolaus Copernicus University, Collegium Medicum in Bydgoszcz, M. Sklodowskiej-Curie 9, 85-094 Bydgoszcz, Poland. Electronic address: tgrzyb@cm.umk.pl.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Grzybowski
mesh_terms: D001483:Base Sequence; D041322:Chromosomes, Human, Y; D017931:DNA Primers; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation
chemical_list: D017931:DNA Primers
keywords: Buryats; Individual identification; RM Y-STRs; Y chromosome