Analysis of Y-chromosomal short tandem repeats prove to be an extremely useful tool in forensic genetics to establish the paternal lineage, to discriminate the male component of DNA mixed stains (especially in rape cases) and in population genetics for evolutionary studies. Recently, the interest of the forensic community has focused on new Y-chromosomal short tandem repeats (Y-STRs), termed Rapidly-Mutating Y-STRs (RM-YSTRs), which may be able to differentiate between close males belonging to the same paternal lineage due to their higher mutation rates . In this work 67 pairs of male relatives composed of 30 father-son and 37 brother pairs, originating from Northeast Italy, were analyzed with 13 RM-YSTRs in order to evaluate whether increased haplotype resolution could be obtained Results showed that, in the 30 father-son pairs, 11 mutation events were detected, while in the 37 brother pairs 14 mutations were observed, 7 of which found in three brother pairs. Overall, the most mutable markers were DYS627, DYF399S1, DYF403S1a, DYS518, DYS526b, DYF404S1 and DYS570. These findings suggest that further pedigrees studies on these markers are needed in order to establish their real suitability in forensic casework .

Male pedigrees: are RM-YSTRs useful to resolve a lineage?

TURRINA, Stefania;Caratti, Stefano;Ferrian, Melissa;DE LEO, Domenico
2014-01-01

Abstract

Analysis of Y-chromosomal short tandem repeats prove to be an extremely useful tool in forensic genetics to establish the paternal lineage, to discriminate the male component of DNA mixed stains (especially in rape cases) and in population genetics for evolutionary studies. Recently, the interest of the forensic community has focused on new Y-chromosomal short tandem repeats (Y-STRs), termed Rapidly-Mutating Y-STRs (RM-YSTRs), which may be able to differentiate between close males belonging to the same paternal lineage due to their higher mutation rates . In this work 67 pairs of male relatives composed of 30 father-son and 37 brother pairs, originating from Northeast Italy, were analyzed with 13 RM-YSTRs in order to evaluate whether increased haplotype resolution could be obtained Results showed that, in the 30 father-son pairs, 11 mutation events were detected, while in the 37 brother pairs 14 mutations were observed, 7 of which found in three brother pairs. Overall, the most mutable markers were DYS627, DYF399S1, DYF403S1a, DYS518, DYS526b, DYF404S1 and DYS570. These findings suggest that further pedigrees studies on these markers are needed in order to establish their real suitability in forensic casework .
Rapidly-Mutating Y-Short Tandem Repeats; male relatives; mutation rate; Northeast Italy population
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/774762
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact