Forensic Science International: Genetics Supplement Series 5 (2015) e141–e143

Contents lists available at ScienceDirect

Forensic Science International: Genetics Supplement Series

journal homepage: www.elsevier.com/locate/FSIGSS

The finding of Y-STR microdeletion involving DYS448, DYS392, DYS549

and DYS385a/b markers in a paternity case with deceased alleged
father
J. Beltramo* , M.A. Pena, M.M. Lojo
Laboratorio de Análisis Comparativo de ADN. Suprema Corte de Justicia de la provincia de Buenos Aires, Argentina

A R T I C L E I N F O A B S T R A C T

Article history: In the context of a post mortem paternity case with the alleged grandfather as the only available reference
Received 21 August 2015 sample, an acceptable LR value was reached (363830) by means of 20 autosomal markers (PowerPlex21
Accepted 14 September 2015 System). The child’s YFiler haplotype showed a signal loss affecting markers DYS385a/b, DYS392 and
Available online 3 October 2015
DYS448. This finding was confirmed with the PPY23 marker set, where the loss of signal was also
observed in DYS549 locus. The missing alleles map to the long arm of the Y chromosome, which
Keywords: encompass the AZFb + c deletion region.
Y-STR microdeletion
Since the grandfather’s haplotype showed a complete profile, it could be assumed that the observed
AZF regions
microdeletion is a de novo event which could have been occurred during grandfather’s or father’s
meiosis. In addition, an inconsistency between Grandfather/child profile was also observed in the
DYS481 marker, which could be explained by assuming a meiosis mutation (23 to 24).
ã 2015 Elsevier Ireland Ltd. All rights reserved.

1. Introduction samples were amplified with YFiler (Applied Biosystems) and

In disputed paternity cases where the alleged father is not
available, his closest relatives are frequently used as reference
samples. In these cases STR typing of sexual markers is used as
complementary analysis to support the biological relationship. The
widely use of Y-STR markers in this context contributes to reveal
the occurrence of rare allelic variants such as silent mutations,
deletions and duplication. For instance, the dropout of the
Amelogenin Y-allele has been associated with a microdeletion of
at least 1.13 Mb on the Y (p) 11.2 region, also affecting MSY1
minisatellite and the DYS458 locus [1]. Also, null alleles in the Y-
STR haplotype have been characterized in relation to AZFa, b and c
regions, in association with male infertility [2]. In herewith it is
reported the finding of a Y-STR microdeletion which encompass
the loci DYS448, DYS392, DYS549 and DY385a/b. This finding was
done in a post mortem paternity investigation. The null alleles
were detected in the grandson, but not in the alleged grandfather.
2. Materials and methods
FTA punches of blood sample from the family group were
amplified with PowerPlex 21 Kit (Promega Corp.). In addition male
* Corresponding author.
E-mail address: julietabeltramo@hotmail.com (J. Beltramo).
PPY23 Kits (Promega Corp.). PCR products were subjected to
capillary electrophoresis in an ABI 3130 or a 3500 Genetic Analyzer
(Applied Biosystems). DNA profiles were analyzed with Gene-
Mapper ID-X v1.2. The Software used to compute the LR value was
FAMILIAS v.1.81.
3. Results and discussion
In a post mortem paternity case where the alleged grandfather
was typed as a reference genotype, the PowerPlex 21 profiles
provided strong evidence in favor of the alleged grandfather- child
relationship (LR: 363830). The YFiler haplotypes of the child and
the alleged grandfather showed concordance in 13 markers.
However, a lack of signal affecting the loci DYS385, DYS392 and
DYS448 was observed in the child profile. Thus, important
information for kinship analysis was lost. The PPY 23 system
added 4 additional concordant markers and one inconsistency in
DYS481 locus that could be interpreted as a mutation (23-24)
during paternal meiosis. Within this system, the loss of signal also
affects the DYS549 locus (Fig. 1), which is located between
DYS385a/b and DYS392 markers and is not included in the YFiler
Set (Fig. 2). As a precedent, one haplotype with null alleles at three
loci (DYS392, DYS448 and DYS549) has been reported in an Indian
population sample, but in this case DYS385 marker was not
affected [3].

http://dx.doi.org/10.1016/j.fsigss.2015.09.057
1875-1768/ ã 2015 Elsevier Ireland Ltd. All rights reserved.
e142 J. Beltramo et al. / Forensic Science International: Genetics Supplement Series 5 (2015) e141–e143

Fig. 1. Child PPY23 profile showing signal lack in DYS448, DYS392, DYS549 and DY385a/b.

Fig. 2. Relative positions of 23 Y-STR loci available in the PowePlexY23 System. http://worldwide.promega.com/resources/profiles-in-dna/2012/variability-of-new-str-loci-
and-kits-in-us-population-groups/.
 J. Beltramo et al. / Forensic Science International: Genetics Supplement Series 5 (2015) e141–e143
The missing markers in the child haplotype, map into the
AZFb + c region, being the last marker (DYS448) located in the
proximal region of the AZFc deletion [4]. However, in a recent
study, this marker was located in the distal part of the AZFb
deletion, suggesting that the affected loci would encompass just
the AZFb zone [5].
Given that the deletion was found only in the haplotype of the
child, it could be assumed that the finding is due to a “de novo”
mutation occurring during grandfather or father meiosis. Taken
into account that AZF deletions have been associated with male
infertility, the event must have been occurred most probably
during father child meiosis.
References
[1] Y.M. Chang, R. Perumal, P.Y. Keat, R.Y.Y. Yong, D.L.C. Kuehn, L. Burgoyne, A
distinct Y-STR haplotype for Amelogenin negative males characterized by a
e143
large Yp11. 2 (DYS458-MSY1-AMEL-Y) deletion, Forensic Sci. Int. 166 (2007)
115–120.
[2] J. Silva, P., Dario, T., Ribeiro, J. Gonçalves, H. Geada, J. Costa Santos. Y-STRs and
AZF microdeletions in clincal context simple. Repositório Cientifico do Instituto
Nacional de Saúde (2012) http://hdl.handle.net/10400.18/1233.
[3] J. Purps, S. Siegert, S. Willuweit, M. Nagy, C. Alves, R. Salazar, et al., A global
analysis of Y-chromosomal haplotype diversity for 23 STR loci, Forensic Sci. Int.
Genet. 12 (2014) 12–20.
[4] P. Balaresque, G.R. Bowden, E.J. Parkin, G.A. Omran, L. Quintana-Murci, L.
Roewer, et al., Dynamic Nature of the Proximal AZFc Region of the Human Y
Chromosome: Multiple Independent Deletion and Duplication Events Revealed
by Microsatellite Analysis Human Mutation, vol. 9, Europe PMC Funders Group,
2009, pp. 1171–1180.
[5] J. Silva, T. Ribeiro, H. Geada, Forensic Y-STR study in Y-chromosome
abnormalities, Acta Med. Leg. Soc. (Liege) (2015) 87–89.