The Usefulness and Discrimination Power of DYS391 Locus Using Power Plex ® Fusion and Power Plex®23Y Systems in Paternity Testing
Abstract
Thirty random cases of Iraqi families contain data of father/son DNA haplotypes have
been analyzed between 2017-2022 to find out the usefulness of DYS 391 Locus in paternity testing
using power-plex ®fusion and power-plex ®Y23systems. Scientifically, all cases were confirmed
and officially reported as an absolute cases of exclusion paternity. A combination of the two systems
should permit effective analysis with sufficient diversity and discrimination power of the locus. The
results show significant match (i.e., inclusion) at the DYS391 locus between alleged fathers and
corresponding sons for both kits in all the cases meanwhile there were no match (i.e., exclusion) in
many autosomal DNA loci and the rest Y-haplotypes other than DYS391. Furthermore, the results
revealed only three DYS391 allele polymorphisms; Allele number 10,11and 9 in a percentage of
69.23%, 27.692% and 3.076% contained in all 30 cases respectively. Allele frequencies, homozygosity,
haplotype diversity (HD), match probability and the power of discrimination of DYS391 locus (PD)
were estimated. The observed allele frequencies were (0.692, 0.276 and 0.030) for allele numbers 10,
11 and 9 respectively. Homozygosity was found to be (0.478, 0.0761 and 0.0009) respectively too.
Measurement of the upper bound confidence interval (CI) for each corresponding allele was (2.642,
2.234 and 1.989). Haplotype diversity was (0.451) and combined power of discrimination for DYS391
Locus was (0.4442). As a conclusion, there is a limitation in certifying DYS391 locus as an exclusive
locus useful Y-STR in testing paternity and male lineage in autosomal STR kits because of little allele
variants, poor power of discrimination and gene diversity.
References
Ammirah J.Omer,et al. “Evaluation of DNA Facilities at Medical Legal Institute: by Sir William Goodwin ”. Letter to Editor, Iraqi Med.J ,2014; Vol.60No.2, pp:190-192
Kathryn Oostdik et al. “Developmental validation of the PowerPlex1 Fusion System for analysis of casework and reference samples: A 24-locus multiplex for new database standards”. F.Sci.I.:Genetics ,12(2014),pp;69-76
Jobling, Mark A., and Chris Tyler-Smith. "Human Y-chromosome variation in the genome-sequencing era." Nature Reviews Genetics 18.8 (2017), pp: 485-497.
Josephine Purps a, , Sabine Siegert b, Sascha Willuweit et al "A global analysis of Y-chromosomal haplotype diversity for 23 STR loci" F.Sci.I.,12(2014),pp:12-23
John M.Butler, Richard S.Petter Vallone, et al "Y Chromosomal DNA Testing" In:Advanced Topics in Forensic DNA Typing : Methodology. Chapte13, AP Academic Press.2011, pp:378
John M., Butler et al "A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers",FSI 129 (2002),pp:10-24
Wiegand, P., and M. Kleiber. "Less is more–length reduction of STR amplicons using redesigned primers." International journal of legal medicine. 114.4 (2001),pp: 285-287.
John M., Butler, Carolyn R.(Becky)Hill, David L. Duewer et al. "Characteristics of 24 Commonly Used Autosomal STR Loci."National Institute of Standard and Technology , Poster#38 at 22nd International Symposium of Human Identification. National Harbor, MD,October4-5,2011. (NIST).STRBase:http://www.cstl.nist.gov/biotech/starbase/pubـpres/ButlerISHI2011poster
Faruk A., Fatih A., Ümit Ç. et al. "Allele and haplotype frequencies of Y-short tandem repeat loci in Turkey." Croat. med J. 44 (2003), pp: 310-314.
D Carvalho-Silva and S.D Pena "Molecular characterization and population study of an X chromosome homolog of the Y-linked microsatellite DYS391". Gene.2000 Apr 18;247(1-2), pp:233-40. doi: 10.1016/s0378-1119(00)00085-8.
L Gusmão , A González-Neira, P Sánchez-Diz, et al "Alternative primers for DYS391 typing: advantages of their application to forensic genetics" Forensic Sci Int.2000. Jul 24;112(1), pp:49-57. doi: 10.1016/s0379-0738(00)00171-7
William Goodwin, Adrian Linacre, and Sibte Hadi. " An introduction to forensic genetics". Second Edition, Wiley-Black Well, Appendix A, 2011: pp181-182
Coble, Michael D., Carolyn R. Hill, and John M. Butler. "Haplotype data for 23 Y-chromosome markers in four US population groups." Forensic Science International: Genetics 7.3 (2013),pp: e66-e68
Turney, Lyn. "Contested paternity: Why, and to whom, genetic paternity testing matters." Proceedings of the Annual Conference of the Australian Sociological Association. 2004.
Imen A., Nadia M.L., Hafedh M. et al. " Combining autosomal and Y-chromosomal short tandem repeat data in paternity testing with male child: methods and application". J Forensic Sci. 2007 , pp:52(5):1068-72
Bruce W. Alan J. R. and Michael F. Hanner. " Joint Match Probabilities for Y Chromosomal and Autosomal Markers". F.Sci.I. Volume:174 Issue: 203, 2008 pp: 234-238
Imad H., Mohammad J and Aamera O. "Genetic variation of 17 Y-chromosomal short tandem repeats (STRs) loci from unrelated individuals in Iraq”. International Journal for Biotechnology and Molecular Biology Research.2013, Vol. 4(8), pp: 119-129
Tie, Jian, et al. "Polymorphisms of six Y-chromosome STRs in a Chinese population." Legal Medicine 6.1 (2004), pp: 41-46.
Peričić M., Barac-Laucet L., Martinović I.et al "Y chromosome haplotypes in Albanian population from Kosovo. " Forensic Science International. 2004, 146(1), pp:61-4
Jeffrey T. Lell, Rem I. Sukernik, Yelena B.et al "The Dual Origin and Siberian Affinities of Native American e Y Chromosomes" Am. J. Hum. Genet. 2002, 70,pp:192–206
Hanan K. Mahmood, Nadia F. Salman, Khalifa M. Salih et al "Frequency of Y-chromosome STRs using PowerPlex® Y23 System in Iraqi population". Egyptian Journal of Forensic Sciences 2020 ,10(12),pp:2-8
Kayser, Manfred, et al. "Evaluation of Y-chromosomal STRs: a multicenter study." International journal of legal medicine 110.3 (1997),pp: 125-133.
R N Oliveira 1, F D Nunes, E K Anzai, E. et al. "Population studies of the Y-chromosome of loci DYS390, DYS391 and DYS393 in Brazilian subjects and its use in human identification" J Forensic Odontostomatol. 2002 Jun;20(1),pp:6-9
