Abstract
Rapidly mutating (RM) Y-STRs were recently identified and can help to differentiate between paternally related males in paternity and forensic casework. Normal Y-STRs are often used in casework due to their paternal inheritance, which can help to resolve kinship cases, and identify male components in male/female mixtures; however, more discriminating profiles are obtained if rapidly mutating Y-STRs are used. Previously two or three multiplex PCRs have been used to amplify 13 RM Y-STRs; here, an assay amplifying these 13 markers in a single multiplex PCR is described. Commercially available male control DNA samples have been genotyped during the validation of this assay, thus providing a tool for calibrating genotyping results. It is expected that the assay will provide a niche tool for genotyping casework samples.
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Buehler EM (1980) A synopsis of the human Y chromosome. Hum Genet 55:145–175
Skaletsky H, Kuroda-Kawaguchl T, Minx PJ, Cordum HS, Hlllier L, Brown LG et al (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825–837
Quintana-Murci L, Krausz C, McElreavey K (2001) The human Y chromosome: function, evolution and disease. Forensic Sci Int 118:169–181
Kayser M, Caglià A, Corach D, Fretwell N, Gehrig C, Graziosi G et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 110:125–133
Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH et al (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26:358–361
Oota H, Settheetham-Ishida W, Tiwawech D, Ishida T, Stoneking M (2001) Human mtDNA and Y-chromosome variation is correlated with matrilocal versus patrilocal residence. Nat Genet 29:20–21
Hammer MF, Karafet TM, Redd AJ, Jarjanazi H, Santachiara-Benerecetti S, Soodyall H et al (2001) Hierarchical patterns of global human Y-chromosome diversity. Mol Biol Evol 18:1189–1203
Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612
Roewer L, Croucher PJP, Willuweit S, Lu TT, Kayser M, Lessig R et al (2005) Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet 116:279–291
Shi W, Ayub Q, Vermeulen M, Shao RG, Zuniga S, Van Der Gaag K et al (2010) A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populations. Mol Biol Evol 27:385–393
Goedbloed M, Vermeulen M, Fang RN, Lembring M, Wollstein A, Ballantyne K et al (2009) Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR® Yfiler® PCR amplification kit. Int J Legal Med 123:471–482
Ballantyne KN, Goedbloed M, Fang R, Schaap O, Lao O, Wollstein A et al (2010) Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am J Hum Genet 87:341–353
Mulero JJ, Chang CW, Calandro LM, Green RL, Li Y, Johnson CL et al (2006) Development and validation of the AmpFlSTR® Yfiler™ PCR amplification kit: a male specific, single amplification 17 Y-STR multiplex system. J Forensic Sci 51:64–75
Thompson R, Zoppis S, McCord B (2012) An overview of DNA typing methods for human identification: past, present, and future. Methods Mol Biol 830:3–16
Gusmão L, Sánchez-Diz P, Alves C, Beleza S, Lopes A, Carracedo A et al (2003) Grouping of Y-STR haplotypes discloses European geographic clines. Forensic Sci Int 134:172–179
Ballantyne KN, Keerl V, Wollstein A, Choi Y, Zuniga SB, Ralf A et al (2012) A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. Forensic Sci Int Genet 6:208–218
Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q et al (2014) Toward male individualization with rapidly mutating Y-chromosomal short tandem repeats. Hum Mutat 35:1021–1032
Alghafri R, Goodwin W, Ralf A, Kayser M, Hadi S (2015) A novel multiplex assay for simultaneously analysing 13 rapidly mutating Y-STRs. Forensic Sci Int Genet 17:91–98
Butler JM, Schoske R (2005) U.S. population data for the multi-copy Y-STR locus DYS464. J Forensic Sci 50:975–977
Berger B, Niederstätter H, Brandstätter A, Parson W (2003) Molecular characterization and Austrian Caucasian population data of the multi-copy Y-chromosomal STR DYS464. Forensic Sci Int 137:221–230
Jacobs M, Janssen L, Vanderheyden N, Bekaert B, Van de Voorde W, Decorte R (2009) Development and evaluation of multiplex Y-STR assays for application in molecular genealogy. Forensic Sci Int Genet 2:57–59
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Hadi, S. (2016). Analysis of Rapidly Mutating Y Chromosome Short Tandem Repeats (RM Y-STRs). In: Goodwin, W. (eds) Forensic DNA Typing Protocols. Methods in Molecular Biology, vol 1420. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-3597-0_16
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DOI: https://doi.org/10.1007/978-1-4939-3597-0_16
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