nach oben

International Journal of Legal Medicine

Erschienen in:

26.03.2019 | Method Paper

The validation study of a novel assay with 30 slow and moderate mutation Y-STR markers for criminal investigation and database applications

verfasst von: Yongsong Zhou, Tong Xie, Yuxin Guo, Xinglin Mei, Qiong Lan, Yating Fang, Xiaoye Jin, Bofeng Zhu

Erschienen in: International Journal of Legal Medicine | Ausgabe 2/2020

Einloggen, um Zugang zu erhalten

Abstract

The Y chromosome short tandem repeat (Y-STR) haplotyping method has been widely used in forensic applications. However, the existing Y-STR panels are not the ideal tools for criminal investigation and database applications because of their relatively low discriminatory capacity (DC) or high mutation rates. In the present study, the multiplex PCR assay (AGCU Y30) for simultaneous amplification of 30 slowly and moderately mutated Y-STR loci labeled by 6-dye fluorescence was developed and validated. The AGCU Y30 assay was capable of amplification purified DNA from casework and database samples on FTA™ cards in direct amplification module with a 10 μL reaction volume. Furthermore, the genetic diversities and forensic parameters of AGCU Y30 were performed using 719 unrelated male samples, demonstrating its high level of genetic polymorphisms and DC in Nantong Han population. This validation study demonstrated good sensitivity, mixture samples, inhibitor tolerance, precision, and concordance for the AGCU Y30, which is suitable for forensic investigation and database construction.

Nur mit Berechtigung zugänglich

Roewer L (2009) Y chromosome STR typing in crime casework. Forensic Sci Med Pathol 5(2):77–84. https://doi.org/10.1007/s12024-009-9089-5 CrossRefPubMed

Xu H, Wang CC, Shrestha R, Wang LX, Zhang M, He Y, Kidd JR, Kidd KK, Jin L, Li H (2015) Inferring population structure and demographic history using Y-STR data from worldwide populations. Mol Gen Genomics 290(1):141–150. https://doi.org/10.1007/s00438-014-0903-8 CrossRef

Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4(8):598–612. https://doi.org/10.1038/nrg1124 CrossRefPubMed

Roewer L, Croucher PJ, Willuweit S, Lu TT, Kayser M, Lessig R, de Knijff P, Jobling MA, Tyler-Smith C, Krawczak M (2005) Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet 116(4):279–291. https://doi.org/10.1007/s00439-004-1201-z CrossRefPubMed

Baeta M, Nunez C, Cardoso S, Palencia-Madrid L, Herrasti L, Etxeberria F, de Pancorbo MM (2015) Digging up the recent Spanish memory: genetic identification of human remains from mass graves of the Spanish Civil War and posterior dictatorship. Forensic Sci Int Genet 19:272–279. https://doi.org/10.1016/j.fsigen.2015.09.001 CrossRefPubMed

Diegoli TM (2015) Forensic typing of short tandem repeat markers on the X and Y chromosomes. Forensic Sci Int Genet 18:140–151. https://doi.org/10.1016/j.fsigen.2015.03.013 CrossRefPubMed

Roewer L, Epplen JT (1992) Rapid and sensitive typing of forensic stains by PCR amplification of polymorphic simple repeat sequences in case work. Forensic Sci Int 53(2):163–171CrossRefPubMed

Butler JM, Schoske R, Vallone PM, Kline MC, Redd AJ, Hammer MF (2002) A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers. Forensic Sci Int 129(1):10–24CrossRefPubMed

Kayser M, Kittler R, Erler A, Hedman M, Lee AC, Mohyuddin A, Mehdi SQ, Rosser Z, Stoneking M, Jobling MA, Sajantila A, Tyler-Smith C (2004) A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet 74(6):1183–1197. https://doi.org/10.1086/421531 CrossRefPubMedPubMedCentral

10.

Rodig H, Roewer L, Gross A, Richter T, de Knijff P, Kayser M, Brabetz W (2008) Evaluation of haplotype discrimination capacity of 35 Y-chromosomal short tandem repeat loci. Forensic Sci Int 174(2–3):182–188. https://doi.org/10.1016/j.forsciint.2007.04.223 CrossRefPubMed

11.

Willems T, Gymrek M, Poznik GD, Tyler-Smith C, Erlich Y (2016) Population-scale sequencing data enable precise estimates of Y-STR mutation rates. Am J Hum Genet 98(5):919–933. https://doi.org/10.1016/j.ajhg.2016.04.001 CrossRefPubMedPubMedCentral

12.

Schoske R, Vallone PM, Ruitberg CM, Butler JM (2003) Multiplex PCR design strategy used for the simultaneous amplification of 10 Y chromosome short tandem repeat (STR) loci. Anal Bioanal Chem 375(3):333–343. https://doi.org/10.1007/s00216-002-1683-2 CrossRefPubMed

13.

Bosch E, Lee AC, Calafell F, Arroyo E, Henneman P, de Knijff P, Jobling MA (2002) High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions. Forensic Sci Int 125(1):42–51CrossRefPubMed

14.

Parkin EJ, Kraayenbrink T, van Driem GL, Tshering Of Gaselo K, de Knijff P, Jobling MA (2006) 26-Locus Y-STR typing in a Bhutanese population sample. Forensic Sci Int 161(1):1–7. https://doi.org/10.1016/j.forsciint.2005.10.008 CrossRefPubMed

15.

Zhang S, Tian H, Wang Z, Zhao S, Hu Z, Li C, Ji C (2014) Development of a new 26plex Y-STRs typing system for forensic application. Forensic Sci Int Genet 13:112–120. https://doi.org/10.1016/j.fsigen.2014.06.015 CrossRefPubMed

16.

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. https://doi.org/10.1016/j.fsigen.2015.04.004 CrossRefPubMed

17.

Sinha SK, Budowle B, Arcot SS, Richey SL, Chakrabor R, Jones MD, Wojtkiewicz PW, Schoenbauer DA, Gross AM, Sinha SK, Shewale JG (2003) Development and validation of a multiplexed Y-chromosome STR genotyping system, Y-PLEX 6, for forensic casework. J Forensic Sci 48(1):93–103CrossRefPubMed

18.

Shewale JG, Nasir H, Schneida E, Gross AM, Budowle B, Sinha SK (2004) Y-chromosome STR system, Y-PLEX 12, for forensic casework: development and validation. J Forensic Sci 49(6):1278–1290CrossRefPubMed

19.

Mulero JJ, Chang CW, Calandro LM, Green RL, Li Y, Johnson CL, Hennessy LK (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(1):64–75. https://doi.org/10.1111/j.1556-4029.2005.00016.x CrossRefPubMed

20.

Thompson JM, Ewing MM, Frank WE, Pogemiller JJ, Nolde CA, Koehler DJ, Shaffer AM, Rabbach DR, Fulmer PM, Sprecher CJ, Storts DR (2013) Developmental validation of the PowerPlex Y23 System: a single multiplex Y-STR analysis system for casework and database samples. Forensic Sci Int Genet 7(2):240–250. https://doi.org/10.1016/j.fsigen.2012.10.013 CrossRefPubMed

21.

Gopinath S, Zhong C, Nguyen V, Ge J, Lagace RE, Short ML, Mulero JJ (2016) Developmental validation of the Yfiler Plus PCR Amplification Kit: an enhanced Y-STR multiplex for casework and database applications. Forensic Sci Int Genet 24:164–175. https://doi.org/10.1016/j.fsigen.2016.07.006 CrossRefPubMed

22.

Hanson EK, Ballantyne J (2004) A highly discriminating 21 locus Y-STR “megaplex” system designed to augment the minimal haplotype loci for forensic casework. J Forensic Sci 49(1):40–51CrossRefPubMed

23.

Hanson EK, Ballantyne J (2007) An ultra-high discrimination Y chromosome short tandem repeat multiplex DNA typing system. PLoS One 2(8):e688. https://doi.org/10.1371/journal.pone.0000688 CrossRefPubMedPubMedCentral

24.

Vermeulen M, Wollstein A, van der Gaag K, Lao O, Xue Y, Wang Q, Roewer L, Knoblauch H, Tyler-Smith C, de Knijff P, Kayser M (2009) Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphisms. Forensic Sci Int Genet 3(4):205–213. https://doi.org/10.1016/j.fsigen.2009.01.009 CrossRefPubMedPubMedCentral

25.

D’Amato ME, Ehrenreich L, Cloete K, Benjeddou M, Davison S (2010) Characterization of the highly discriminatory loci DYS449, DYS481, DYS518, DYS612, DYS626, DYS644 and DYS710. Forensic Sci Int Genet 4(2):104–110. https://doi.org/10.1016/j.fsigen.2009.06.011 CrossRefPubMed

26.

Rogalla U, Wozniak M, Swobodzinski J, Derenko M, Malyarchuk BA, Dambueva I, Kozinski M, Kubica J, Grzybowski T (2015) A novel multiplex assay amplifying 13 Y-STRs characterized by rapid and moderate mutation rate. Forensic Sci Int Genet 15:49–55. https://doi.org/10.1016/j.fsigen.2014.11.004 CrossRefPubMed

27.

Caliebe A, Jochens A, Willuweit S, Roewer L, Krawczak M (2015) No shortcut solution to the problem of Y-STR match probability calculation. Forensic Sci Int Genet 15:69–75. https://doi.org/10.1016/j.fsigen.2014.10.016 CrossRefPubMed

28.

Ballantyne KN, Goedbloed M, Fang R, Schaap O, Lao O, Wollstein A, Choi Y, van Duijn K, Vermeulen M, Brauer S, Decorte R, Poetsch M, von Wurmb-Schwark N, de Knijff P, Labuda D, Vezina H, Knoblauch H, Lessig R, Roewer L, Ploski R, Dobosz T, Henke L, Henke J, Furtado MR, Kayser M (2010) Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am J Hum Genet 87(3):341–353. https://doi.org/10.1016/j.ajhg.2010.08.006 CrossRefPubMedPubMedCentral

29.

Ballantyne KN, Keerl V, Wollstein A, Choi Y, Zuniga SB, Ralf A, Vermeulen M, de Knijff P, Kayser M (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(2):208–218. https://doi.org/10.1016/j.fsigen.2011.04.017 CrossRefPubMed

30.

Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, Balazic J, Ballantyne J, Ballard DJ et al (2014) Toward male individualization with rapidly mutating Y-chromosomal short tandem repeats. Hum Mutat 35(8):1021–1032. https://doi.org/10.1002/humu.22599 CrossRefPubMedPubMedCentral

31.

Henry J, Simon C, Linacre A (2015) The benefits and limitations of expanded Y-chromosome short tandem repeat (Y-STR) loci. https://doi.org/10.1016/j.fsigss.2015.09.012 CrossRef

32.

Decker AE, Kline MC, Vallone PM, Butler JM (2007) The impact of additional Y-STR loci on resolving common haplotypes and closely related individuals. Forensic Sci Int Genet 1(2):215–217. https://doi.org/10.1016/j.fsigen.2007.01.012 CrossRefPubMed

33.

Hanson EK, Berdos PN, Ballantyne J (2006) Testing and evaluation of 43 “noncore” Y chromosome markers for forensic casework applications. J Forensic Sci 51(6):1298–1314. https://doi.org/10.1111/j.1556-4029.2006.00263.x CrossRefPubMed

34.

SWGDAM, Validation guidelines for DNA analysis methods. http://swgdam.org/SWGDAM_Validation_Guidelines_APPROVED_Dec_2012.pdf

35.

SWGDAM, Interpretation guidelines for Y-chromosome STR typing. http://swgdam.org/SWGDAM_YSTR_Guidelines_APPROVED_01092014_v_02112014_F INAL.pdf.

36.

Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York, pp 176–179CrossRef

Titel: The validation study of a novel assay with 30 slow and moderate mutation Y-STR markers for criminal investigation and database applications
verfasst von: Yongsong Zhou
Tong Xie
Yuxin Guo
Xinglin Mei
Qiong Lan
Yating Fang
Xiaoye Jin
Bofeng Zhu
Publikationsdatum: 26.03.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: International Journal of Legal Medicine / Ausgabe 2/2020
Print ISSN: 0937-9827
Elektronische ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-019-02037-w

Neu im Fachgebiet Rechtsmedizin

01.04.2024 | Forensische Traumatologie | CME

Springer Medizin

The validation study of a novel assay with 30 slow and moderate mutation Y-STR markers for criminal investigation and database applications

Abstract

Neu im Fachgebiet Rechtsmedizin

Theoretische Grundlagen von Explosionen und Explosionsverletzungen

Auswirkungen vorgeschalteter Laborprozesse auf die Digitalisierung histologischer Schnittpräparate

Knochenmarkhistologie bei Zytopenien

Herausforderungen der Automation bei der quantitativen Auswertung von Leberbiopsien

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 2/2020

Age estimation based on different molecular clocks in several tissues and a multivariate approach: an explorative study

Inter-population variation of histomorphometric variables used in the estimation of age-at-death

Preliminary analysis testing the accuracy of radiographic visibility of root pulp in the mandibular first molars as a maturity marker at age threshold of 18 years

Pigs vs people: the use of pigs as analogues for humans in forensic entomology and taphonomy research

New model for dental age estimation: Willems method applied on fewer than seven mandibular teeth

Separating forensic, WWII, and archaeological human skeletal remains using ATR-FTIR spectra

Neu im Fachgebiet Rechtsmedizin

Theoretische Grundlagen von Explosionen und Explosionsverletzungen

Auswirkungen vorgeschalteter Laborprozesse auf die Digitalisierung histologischer Schnittpräparate

Knochenmarkhistologie bei Zytopenien

Herausforderungen der Automation bei der quantitativen Auswertung von Leberbiopsien