Rapidly mutating Y-STR analyses of compromised forensic samples

Rashed Alghafri, Irena Zupanič Pajnič, Tomaž Zupanc, Jože Balažic, Pankaj Shrivastava

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)

Abstract

Rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) were identified to improve differentiation of unrelated males and also to enable separating closely and distantly related males in human identity testing in forensic and other applications. RM-Yplex assay was developed as a single multiplex that is capable of simultaneously amplifying all currently known RM Y-STRs, and reproducibility and sensitivity testing were performed on reference samples. Additional analyses are necessary to test its suitability for analysing compromised forensic samples. For this purpose, we applied the RM-Yplex assay to approximately 70-year-old skeletons that were used as a model for poorly preserved, challenging forensic samples. We analysed 57 male skeletal remains (bones and teeth) from 55 skeletons excavated from the Second World War (WWII) mass graves in Slovenia. The RM-Yplex typing was successful in all 57 samples; there were 56% full profiles obtained, and in partial profiles, up to 7 locus drop-outs were observed and they appeared correlated with low DNA quantities and degradation of DNA obtained from WWII bone and tooth samples. The longest loci, DYS403S1b, DYS547, DYS627 and DYS526b, were the most often dropped-out RM Y-STRs. In spite of high frequency of drop-out events, the RM-Yplex typing was successful in all WWII samples, showing the possibility of successful amplification of at least half of the RM Y-STRs even from the most compromised samples analysed.

Original languageEnglish
Pages (from-to)397-403
Number of pages7
JournalInternational Journal of Legal Medicine
Volume132
Issue number2
DOIs
Publication statusPublished - 1 Mar 2018
Externally publishedYes

Fingerprint

Microsatellite Repeats
Skeleton
Tooth
Slovenia
Bone and Bones
World War II
DNA

Cite this

Alghafri, Rashed ; Zupanič Pajnič, Irena ; Zupanc, Tomaž ; Balažic, Jože ; Shrivastava, Pankaj. / Rapidly mutating Y-STR analyses of compromised forensic samples. In: International Journal of Legal Medicine. 2018 ; Vol. 132, No. 2. pp. 397-403.
@article{59ebe3c1f72f4274bf0a14046626ab33,
title = "Rapidly mutating Y-STR analyses of compromised forensic samples",
abstract = "Rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) were identified to improve differentiation of unrelated males and also to enable separating closely and distantly related males in human identity testing in forensic and other applications. RM-Yplex assay was developed as a single multiplex that is capable of simultaneously amplifying all currently known RM Y-STRs, and reproducibility and sensitivity testing were performed on reference samples. Additional analyses are necessary to test its suitability for analysing compromised forensic samples. For this purpose, we applied the RM-Yplex assay to approximately 70-year-old skeletons that were used as a model for poorly preserved, challenging forensic samples. We analysed 57 male skeletal remains (bones and teeth) from 55 skeletons excavated from the Second World War (WWII) mass graves in Slovenia. The RM-Yplex typing was successful in all 57 samples; there were 56{\%} full profiles obtained, and in partial profiles, up to 7 locus drop-outs were observed and they appeared correlated with low DNA quantities and degradation of DNA obtained from WWII bone and tooth samples. The longest loci, DYS403S1b, DYS547, DYS627 and DYS526b, were the most often dropped-out RM Y-STRs. In spite of high frequency of drop-out events, the RM-Yplex typing was successful in all WWII samples, showing the possibility of successful amplification of at least half of the RM Y-STRs even from the most compromised samples analysed.",
author = "Rashed Alghafri and {Zupanič Pajnič}, Irena and Tomaž Zupanc and Jože Balažic and Pankaj Shrivastava",
year = "2018",
month = "3",
day = "1",
doi = "10.1007/s00414-017-1600-z",
language = "English",
volume = "132",
pages = "397--403",
journal = "Zeitschrift fur Rechtsmedizin. Journal of legal medicine",
issn = "0937-9827",
publisher = "Springer",
number = "2",

}

Alghafri, R, Zupanič Pajnič, I, Zupanc, T, Balažic, J & Shrivastava, P 2018, 'Rapidly mutating Y-STR analyses of compromised forensic samples' International Journal of Legal Medicine, vol. 132, no. 2, pp. 397-403. https://doi.org/10.1007/s00414-017-1600-z

Rapidly mutating Y-STR analyses of compromised forensic samples. / Alghafri, Rashed; Zupanič Pajnič, Irena; Zupanc, Tomaž; Balažic, Jože; Shrivastava, Pankaj.

In: International Journal of Legal Medicine, Vol. 132, No. 2, 01.03.2018, p. 397-403.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Rapidly mutating Y-STR analyses of compromised forensic samples

AU - Alghafri, Rashed

AU - Zupanič Pajnič, Irena

AU - Zupanc, Tomaž

AU - Balažic, Jože

AU - Shrivastava, Pankaj

PY - 2018/3/1

Y1 - 2018/3/1

N2 - Rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) were identified to improve differentiation of unrelated males and also to enable separating closely and distantly related males in human identity testing in forensic and other applications. RM-Yplex assay was developed as a single multiplex that is capable of simultaneously amplifying all currently known RM Y-STRs, and reproducibility and sensitivity testing were performed on reference samples. Additional analyses are necessary to test its suitability for analysing compromised forensic samples. For this purpose, we applied the RM-Yplex assay to approximately 70-year-old skeletons that were used as a model for poorly preserved, challenging forensic samples. We analysed 57 male skeletal remains (bones and teeth) from 55 skeletons excavated from the Second World War (WWII) mass graves in Slovenia. The RM-Yplex typing was successful in all 57 samples; there were 56% full profiles obtained, and in partial profiles, up to 7 locus drop-outs were observed and they appeared correlated with low DNA quantities and degradation of DNA obtained from WWII bone and tooth samples. The longest loci, DYS403S1b, DYS547, DYS627 and DYS526b, were the most often dropped-out RM Y-STRs. In spite of high frequency of drop-out events, the RM-Yplex typing was successful in all WWII samples, showing the possibility of successful amplification of at least half of the RM Y-STRs even from the most compromised samples analysed.

AB - Rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) were identified to improve differentiation of unrelated males and also to enable separating closely and distantly related males in human identity testing in forensic and other applications. RM-Yplex assay was developed as a single multiplex that is capable of simultaneously amplifying all currently known RM Y-STRs, and reproducibility and sensitivity testing were performed on reference samples. Additional analyses are necessary to test its suitability for analysing compromised forensic samples. For this purpose, we applied the RM-Yplex assay to approximately 70-year-old skeletons that were used as a model for poorly preserved, challenging forensic samples. We analysed 57 male skeletal remains (bones and teeth) from 55 skeletons excavated from the Second World War (WWII) mass graves in Slovenia. The RM-Yplex typing was successful in all 57 samples; there were 56% full profiles obtained, and in partial profiles, up to 7 locus drop-outs were observed and they appeared correlated with low DNA quantities and degradation of DNA obtained from WWII bone and tooth samples. The longest loci, DYS403S1b, DYS547, DYS627 and DYS526b, were the most often dropped-out RM Y-STRs. In spite of high frequency of drop-out events, the RM-Yplex typing was successful in all WWII samples, showing the possibility of successful amplification of at least half of the RM Y-STRs even from the most compromised samples analysed.

UR - http://www.scopus.com/inward/record.url?scp=85018418211&partnerID=8YFLogxK

U2 - 10.1007/s00414-017-1600-z

DO - 10.1007/s00414-017-1600-z

M3 - Article

VL - 132

SP - 397

EP - 403

JO - Zeitschrift fur Rechtsmedizin. Journal of legal medicine

JF - Zeitschrift fur Rechtsmedizin. Journal of legal medicine

SN - 0937-9827

IS - 2

ER -