Empirical Evidence on Enhanced Mutation Rates of 19 RM-YSTRs for Differentiating Paternal Lineages.

Javed, F; Shafique, M; McNevin, D; Javed, MU; Shehzadi, A; Shahid, AA

Empirical Evidence on Enhanced Mutation Rates of 19 RM-YSTRs for Differentiating Paternal Lineages.

Javed, F Shafique, M McNevin, D

Javed, MU Shehzadi, A Shahid, AA

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Publisher:: MDPI
Publication Type:: Journal Article
Citation:: Genes (Basel), 2022, 13, (6), pp. 946
Issue Date:: 2022-05-26

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Field	Value	Language
dc.contributor.author	Javed, F
dc.contributor.author	Shafique, M
dc.contributor.author	McNevin, D https://orcid.org/0000-0003-1665-3367
dc.contributor.author	Javed, MU
dc.contributor.author	Shehzadi, A
dc.contributor.author	Shahid, AA
dc.date.accessioned	2022-07-26T07:54:45Z
dc.date.available	2022-05-20
dc.date.available	2022-07-26T07:54:45Z
dc.date.issued	2022-05-26
dc.identifier.citation	Genes (Basel), 2022, 13, (6), pp. 946
dc.identifier.issn	2073-4425
dc.identifier.issn	2073-4425
dc.identifier.uri	http://hdl.handle.net/10453/159177
dc.description.abstract	Rapidly mutating Y-chromosomal short tandem repeats (RM Y STRs) with mutation rates ≥ 10-2 per locus per generation are valuable for differentiating amongst male paternal relatives where standard Y STRs with mutation rates of ≤10-3 per locus per generation may not. Although the 13 RM Y STRs commonly found in commercial assays provide higher levels of paternal lineage differentiation than conventional Y STRs, there are many male paternal relatives that still cannot be differentiated. This can be improved by increasing the number of Y STRs or choosing those with high mutation rates. We present a RM Y STR multiplex comprising 19 loci with high mutation rates and its developmental validation (repeatability, sensitivity and male specificity). The multiplex was found to be robust, reproducible, specific and sensitive enough to generate DNA profiles from samples with inhibitors. It was also able to detect all contributor alleles of mixtures in ratios up to 9:1. We provide preliminary evidence for the ability of the multiplex to discriminate between male paternal relatives by analyzing large numbers of male relative pairs (536) separated by one to seven meioses. A total of 96 mutations were observed in 162 meioses of father-son pairs, and other closely related male pairs were able to be differentiated after 1, 2, 3, 4, 5, 6 and 7 meiosis in 44%, 69%, 68%, 85%, 0%, 100% and 100% of cases, respectively. The multiplex offers a noticeable enhancement in the ability to differentiate paternally related males compared with the 13 RM Y STR set. We envision the future application of our 19 RM Yplex in criminal cases for the exclusion of male relatives possessing matching standard Y STR profiles and in familial searching with unknown suspects. It represents a step towards the complete individualization of closely related males.
dc.format	Electronic
dc.language	eng
dc.publisher	MDPI
dc.relation.ispartof	Genes (Basel)
dc.relation.isbasedon	10.3390/genes13060946
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	0604 Genetics
dc.subject.mesh	Chromosomes, Human, Y
dc.subject.mesh	Fathers
dc.subject.mesh	Haplotypes
dc.subject.mesh	Humans
dc.subject.mesh	Male
dc.subject.mesh	Microsatellite Repeats
dc.subject.mesh	Mutation Rate
dc.subject.mesh	Neuroblastoma
dc.subject.mesh	Chromosomes, Human, Y
dc.subject.mesh	Humans
dc.subject.mesh	Neuroblastoma
dc.subject.mesh	Fathers
dc.subject.mesh	Microsatellite Repeats
dc.subject.mesh	Haplotypes
dc.subject.mesh	Male
dc.subject.mesh	Mutation Rate
dc.title	Empirical Evidence on Enhanced Mutation Rates of 19 RM-YSTRs for Differentiating Paternal Lineages.
dc.type	Journal Article
utslib.citation.volume	13
utslib.location.activity	Switzerland
utslib.for	0604 Genetics
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Science
pubs.organisational-group	/University of Technology Sydney/Strength - CFS - Centre for Forensic Science
pubs.organisational-group	/University of Technology Sydney/Faculty of Science/School of Mathematical and Physical Sciences
utslib.copyright.status	open_access	*
dc.date.updated	2022-07-26T07:54:44Z
pubs.issue	6
pubs.publication-status	Published online
pubs.volume	13
utslib.citation.issue	6

Abstract:

Rapidly mutating Y-chromosomal short tandem repeats (RM Y STRs) with mutation rates ≥ 10-2 per locus per generation are valuable for differentiating amongst male paternal relatives where standard Y STRs with mutation rates of ≤10-3 per locus per generation may not. Although the 13 RM Y STRs commonly found in commercial assays provide higher levels of paternal lineage differentiation than conventional Y STRs, there are many male paternal relatives that still cannot be differentiated. This can be improved by increasing the number of Y STRs or choosing those with high mutation rates. We present a RM Y STR multiplex comprising 19 loci with high mutation rates and its developmental validation (repeatability, sensitivity and male specificity). The multiplex was found to be robust, reproducible, specific and sensitive enough to generate DNA profiles from samples with inhibitors. It was also able to detect all contributor alleles of mixtures in ratios up to 9:1. We provide preliminary evidence for the ability of the multiplex to discriminate between male paternal relatives by analyzing large numbers of male relative pairs (536) separated by one to seven meioses. A total of 96 mutations were observed in 162 meioses of father-son pairs, and other closely related male pairs were able to be differentiated after 1, 2, 3, 4, 5, 6 and 7 meiosis in 44%, 69%, 68%, 85%, 0%, 100% and 100% of cases, respectively. The multiplex offers a noticeable enhancement in the ability to differentiate paternally related males compared with the 13 RM Y STR set. We envision the future application of our 19 RM Yplex in criminal cases for the exclusion of male relatives possessing matching standard Y STR profiles and in familial searching with unknown suspects. It represents a step towards the complete individualization of closely related males.

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http://hdl.handle.net/10453/159177