Skip to main content
Top
Published in: International Journal of Legal Medicine 6/2018

01-11-2018 | Original Article

Male individualization using 12 rapidly mutating Y-STRs in Araein ethnic group and shared paternal lineage of Pakistani population

Authors: Faqeeha Javed, Sumbal Sumbal, Muhammad Shafique, Ahmad Ali Shahid, Abida Shahzadi, Noshaba Rani, Hira Javid, Madeeha Javed, Noman Gillani, Tayyab Husnain

Published in: International Journal of Legal Medicine | Issue 6/2018

Login to get access

Abstract

A multiplex assay has been developed with newly designed primer sets comprising high mutation rate 12 RM Y-STR markers (DYS570, DYF399S1, DYS547, DYS612, DYF387S1, DYS449, DYS576, DYS5626, DYF403S1 (a + b), DYS627, DYS526, and DYF404S1). Rapidly mutating Y-STRs were evaluated in 167 male individuals among 97 were unrelated from Araein ethnic group and 70 belonged to shared paternal lineage including 20 pairs of father-son and 15 pairs of brother-brother relationship collected from Punjabi population of Pakistan. Forensic competency parameters were implemented for each marker and exceptionally significant results found wherein polymorphism information content (PIC) was in range of 0.7494 (DYS576) to 0.8994 (DYS627). Samples were also analyzed with Y-filer kit for comparison and marked differentiations observed. Haplotype discrimination capacity was 100% as no haplotype shared among all the unrelated individuals of same ethnic group as compared to 17 Y-filer loci (78%). While in closely related males, discrimination capacity was 96.4% with haplotype diversity value of 0.98. Resulted high mutation rate 1 × 10−2 to 7.14 × 10−2 as compared to Y-filer (1 × 10−4 to 1 × 10−3) manifested the power of RM Y-STRs for considering absolute individualization of interrelated and unrelated male individuals. However, multiplex assay would be useful for male discrimination in mixed DNA specimen, azoospermic males, and multiple male DNA contributors in sexual assault cases and mass disasters victim’s identification as well as anthropological studies.
Appendix
Available only for authorised users
Literature
1.
go back to reference Underhill PA, Shen P, Lin AA, Li J, Passarino G, Yang WH, Kauffman E, Bonné-Tamir B, Bertranpetit J, Francalacci P (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26(3):358–361CrossRef Underhill PA, Shen P, Lin AA, Li J, Passarino G, Yang WH, Kauffman E, Bonné-Tamir B, Bertranpetit J, Francalacci P (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26(3):358–361CrossRef
2.
go back to reference Butler JM (2005) Forensic DNA typing: biology, technology, and genetics of STR markers. Academic Press Butler JM (2005) Forensic DNA typing: biology, technology, and genetics of STR markers. Academic Press
3.
go back to reference Liu P, Seo TS, Beyor N, Shin K-J, Scherer JR, Mathies RA (2007) Integrated portable polymerase chain reaction-capillary electrophoresis microsystem for rapid forensic short tandem repeat typing. Anal Chem 79(5):1881–1889CrossRef Liu P, Seo TS, Beyor N, Shin K-J, Scherer JR, Mathies RA (2007) Integrated portable polymerase chain reaction-capillary electrophoresis microsystem for rapid forensic short tandem repeat typing. Anal Chem 79(5):1881–1889CrossRef
4.
go back to reference Ozbaran B, Erermis S, Bukusoglu N, Bildik T, Tamar M, Ercan ES, Aydin C, Cetin SK (2009) Social and emotional outcomes of child sexual abuse: a clinical sample in Turkey. J Interpers Violence 24(9):1478–1493CrossRef Ozbaran B, Erermis S, Bukusoglu N, Bildik T, Tamar M, Ercan ES, Aydin C, Cetin SK (2009) Social and emotional outcomes of child sexual abuse: a clinical sample in Turkey. J Interpers Violence 24(9):1478–1493CrossRef
5.
go back to reference Coble MD, Loreille OM, Wadhams MJ, Edson SM, Maynard K, Meyer CE, Niederstätter H, Berger C, Berger B, Falsetti AB (2009) Mystery solved: the identification of the two missing Romanov children using DNA analysis. PLoS One 4(3):e4838CrossRef Coble MD, Loreille OM, Wadhams MJ, Edson SM, Maynard K, Meyer CE, Niederstätter H, Berger C, Berger B, Falsetti AB (2009) Mystery solved: the identification of the two missing Romanov children using DNA analysis. PLoS One 4(3):e4838CrossRef
6.
go back to reference Gusmão L, Butler JM, Carracedo A, Gill P, Kayser M, Mayr W, Morling N, Prinz M, Roewer L, Tyler-Smith C (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 120(4):191–200CrossRef Gusmão L, Butler JM, Carracedo A, Gill P, Kayser M, Mayr W, Morling N, Prinz M, Roewer L, Tyler-Smith C (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 120(4):191–200CrossRef
7.
go back to reference Roewer L (2009) Y chromosome STR typing in crime casework. Forensic Sci Med Pathol 5(2):77–84CrossRef Roewer L (2009) Y chromosome STR typing in crime casework. Forensic Sci Med Pathol 5(2):77–84CrossRef
8.
go back to reference Boattini A, Sarno S, Bini C, Pesci V, Barbieri C, De Fanti S, Quagliariello A, Pagani L, Ayub Q, Ferri G (2016) Mutation rates and discriminating power for 13 rapidly-mutating Y-STRs between related and unrelated individuals. PLoS One 11(11):e0165678CrossRef Boattini A, Sarno S, Bini C, Pesci V, Barbieri C, De Fanti S, Quagliariello A, Pagani L, Ayub Q, Ferri G (2016) Mutation rates and discriminating power for 13 rapidly-mutating Y-STRs between related and unrelated individuals. PLoS One 11(11):e0165678CrossRef
9.
go back to reference 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):208–218CrossRef 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):208–218CrossRef
10.
go back to reference Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, Balažic J, Ballantyne J, Ballard DJ, Berger B (2014) Toward male individualization with rapidly mutating Y-chromosomal short tandem repeats. Hum Mutat 35(8):1021–1032CrossRef Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, Balažic J, Ballantyne J, Ballard DJ, Berger B (2014) Toward male individualization with rapidly mutating Y-chromosomal short tandem repeats. Hum Mutat 35(8):1021–1032CrossRef
11.
go back to reference Alghafri R, Pajnič IZ, Zupanc T, Balažic J, Shrivastava P (2018) Rapidly mutating Y-STR analyses of compromised forensic samples. Int J Legal Med 132(2):397–403CrossRef Alghafri R, Pajnič IZ, Zupanc T, Balažic J, Shrivastava P (2018) Rapidly mutating Y-STR analyses of compromised forensic samples. Int J Legal Med 132(2):397–403CrossRef
12.
go back to reference Signer E, Kuenzle CC, Thomann PE, Hübscher U (1988) DNA fingerprinting: improved DNA extraction from small blood samples. Nucleic Acids Res 16(15):7738CrossRef Signer E, Kuenzle CC, Thomann PE, Hübscher U (1988) DNA fingerprinting: improved DNA extraction from small blood samples. Nucleic Acids Res 16(15):7738CrossRef
13.
go back to reference 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 17:91–98CrossRef 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 17:91–98CrossRef
14.
go back to reference Liu K, Muse SV (2005) PowerMarker: an integrated analysis environment for genetic marker analysis. Bioinformatics 21(9):2128–2129CrossRef Liu K, Muse SV (2005) PowerMarker: an integrated analysis environment for genetic marker analysis. Bioinformatics 21(9):2128–2129CrossRef
15.
go back to reference Guo F, Shen H, Tian H, Jin P, Jiang X (2014) Development of a 24-locus multiplex system to incorporate the core loci in the CombinedDNA Index System (CODIS) and the European Standard Set (ESS). Forensic Sci Int Genet 8(1):44–54CrossRef Guo F, Shen H, Tian H, Jin P, Jiang X (2014) Development of a 24-locus multiplex system to incorporate the core loci in the CombinedDNA Index System (CODIS) and the European Standard Set (ESS). Forensic Sci Int Genet 8(1):44–54CrossRef
16.
go back to reference Butler JM, Shen Y, McCord BR (2003) The development of reduced size STR amplicons as tools for analysis of degraded DNA. J Forensic Sci 48(5):1054–1064CrossRef Butler JM, Shen Y, McCord BR (2003) The development of reduced size STR amplicons as tools for analysis of degraded DNA. J Forensic Sci 48(5):1054–1064CrossRef
17.
go back to reference Shafique M, Shahzad MS, Rahman Z, Shan MA, Perveen R, Shahzad M, Hussain M, Shahid AA, Husnain T (2016) Development of new PCR multiplex system by the simultaneous detection of 10 miniSTRs, SE33, Penta E, Penta D, and four Y-STRs. Int J Legal Med 130(6):1409–1419CrossRef Shafique M, Shahzad MS, Rahman Z, Shan MA, Perveen R, Shahzad M, Hussain M, Shahid AA, Husnain T (2016) Development of new PCR multiplex system by the simultaneous detection of 10 miniSTRs, SE33, Penta E, Penta D, and four Y-STRs. Int J Legal Med 130(6):1409–1419CrossRef
18.
go back to reference Alghafri R, Goodwin W, Hadi S (2013) Rapidly mutating Y-STRs multiplex genotyping panel to investigate UAE population. Forensic Sci Int Genet Suppl Ser 4(1):e200–e201CrossRef Alghafri R, Goodwin W, Hadi S (2013) Rapidly mutating Y-STRs multiplex genotyping panel to investigate UAE population. Forensic Sci Int Genet Suppl Ser 4(1):e200–e201CrossRef
19.
go back to reference Brito P, Carvalho M, Bogas V, Bento A, Serra A, Andrade L, Balsa F, São-Bento M, Souto L, Corte-Real F (2013) Study of rapidly mutating Y-STRs in a Portuguese population. Forensic Sci Int Genet Suppl Ser 4(1):e83–e84CrossRef Brito P, Carvalho M, Bogas V, Bento A, Serra A, Andrade L, Balsa F, São-Bento M, Souto L, Corte-Real F (2013) Study of rapidly mutating Y-STRs in a Portuguese population. Forensic Sci Int Genet Suppl Ser 4(1):e83–e84CrossRef
20.
go back to reference 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):40–51CrossRef 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):40–51CrossRef
Metadata
Title
Male individualization using 12 rapidly mutating Y-STRs in Araein ethnic group and shared paternal lineage of Pakistani population
Authors
Faqeeha Javed
Sumbal Sumbal
Muhammad Shafique
Ahmad Ali Shahid
Abida Shahzadi
Noshaba Rani
Hira Javid
Madeeha Javed
Noman Gillani
Tayyab Husnain
Publication date
01-11-2018
Publisher
Springer Berlin Heidelberg
Published in
International Journal of Legal Medicine / Issue 6/2018
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI
https://doi.org/10.1007/s00414-018-1851-3

Other articles of this Issue 6/2018

International Journal of Legal Medicine 6/2018 Go to the issue