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Artigo Database of Y Specific Genetic Profiles
Artigo Database of Y Specific Genetic Profiles
Grasielly de Oliveira Lázaro e Arão a, Nígela Rodrigue Carvalhoa, Mariana Flavia Motaa,
Neide Maria de Oliveira Godinhoa, Thaís Cidália Vieira Gigonzacb.
Affiliation
a
Scientific Police of Goiás State, Brazil
b
Department of Health of Goiás State, Brazil
Correspondence
Grasielly de Oliveira Lázaro e Arão: Instituto de Criminalística Leonardo Rodrigues,
Laboratório de Biologia e DNA Forense. Avenida Atílio Correia Lima, n.° 1223, Setor
Cidade Jardim, 74425-030, Goiânia-Goiás/Brazil. Fax: +55-62-3201-9518 Phone: +55-62-
3201-9543. E-mail: grasilazzaro@gmail.com.
Conflicts of Interest
The authors have none conflicts of interest to declare.
Abstract
Given that the vast majority of sex crimes involve men as crime perpetrators, molecular
markers Y-STR can be valuable in the criminal investigation process. The Y chromosome has
been promising when the objective is to identify the male DNA source in the analyzed
sample, especially when it is presented in small quantities or mixed with genetic material
from female origin, which are rather typical in samples of vaginal smears from rape. In
addition to the fact that sexual assaults have a recurrent pattern, constituting serial crimes, the
present work proposes the creation of an in-house Database of Genetic Profiles Trace for Y-
STR markers (BVPG-YSTR), in order to elucidate sex crimes occurred in the state of Goiás,
(Central Brazil). The study analyzed cases of sexual violence with a positive result for
cytological spermatozoa research, registered in the Scientific Police of Goiás State,
comprising the period of 2004 to July 2018. Samples related to 271 cases were submitted to
DNA exams. DNA extraction was given with differential lysis by organic method or with the
use of PrepFiler Express ™ (Applied Biosystems®), DNA quantification was performed by
Real-time PCR and amplification with AmpFlSTR®Yfiler ™ multiplex kits (Applied
Biosystems®) or PowerPlex® Y23 (Promega) or Yfiler ™ Plus (Applied Biosystems®). The
amplification products were separated by capillary electrophoresis in the ABI 3500® Genetic
Analyzer (Applied Biosystems®). Of the 271 cases of crimes of sexual aggression submitted
to DNA examination using markers of the Y chromosome, in 93.0% the profile of the
aggressor was obtained. The insertion of 252 haplotypic profiles in the BVPG-YSTR resulted
in 85 matches between traces of crimes of sexual violence, involving 17 aggressors and 55
victims. In 18.1% of the cases, coincidences were reported exclusively by the BVPG-YSTR,
this means that in almost 1/5 of cases the Y chromosome markers analysis added information
to the serial crime investigation. Thus, the usage of BVPG-YSTR looked promising as far as
aiding criminal investigations is concerned.
Highlights
The present study highlights the importance of the use of molecular markers of the
Y chromosome for the elucidation of sexual crimes.
Of the cases of sexual aggression crimes submitted to DNA testing, 93.0% of the
aggressors were found to have Y-chromosome markers. This result was higher than that
achieved in the analyzes with autosomal markers, which resulted in 82.0 %.
The results of the research showed that in 18.1% of the cases of sexual violence the
genetic coincidences were exclusively reported by the Y-STR database.
In almost 1/5 of the cases of sexual violence studied, the Y chromosome marker
analysis added information to the serial crime investigation.
1. Introduction
2.4 Construction of the in-house Database of Genetic Profiles Trace for Y-STR markers
(BVPG-YSTR)
In the BVPG-YSTR, haplotypic profiles were inserted from traces related to sexual
crime against a female person and presented a genetic profile of quality. Genetic information
stored in the database does not contain somatic or behavioral traits of persons other than
genetic sex determination.
The 163 samples analyzed during project execution were subjected to DNA
amplification using the commercial Yfiler ™ Plus kit (Thermo Fisher Scientific). However,
through a retrospective study of DNA exams issued by LBDF / ICLR / SPTC-GO, observing
the criteria for inclusion of the research and quality of the genetic profile, some haplotypes
could be included in the BVPG-YSTR. These samples were typed at the time of the tests with
other commercial amplification kits, 31 samples with AmpFlSTR® Yfiler ™ (Thermo Fisher
Scientific) and 85 samples with PowerPlex® Y23 (Promega) (Table 1), corresponding to the
total of 252 haplotypic profiles inserted into the BVPG-YSTR.
The Y-STR haplotype profiles of this study were submitted to the YHRD "Y-
Chromosome Haplotype Reference Database" (https://yhrd.org) under accession numbers
YA004377 and YA004577.
Set of 23 markers: DYS19, DYS389 I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b,
DYS438, DYS439, DYS437, DYS448, DYS456, DYS458, DYS635, YGATA H4, DYS576, DYS481, DYS533,
DYS570, DYS549, DYS643.
Set of 27 markers: DYS19, DYS389 I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b,
DYS438, DYS439, DYS437, DYS448, DYS456, DYS458, DYS635, YGATA H4, DYS576, DYS481, DYS533,
DYS570, DYS449, DYS460
In the present study, of the 271 cases of sexual violence, submitted to DNA testing,
93.0% of the aggressors were found to have aggressor profiles using Y chromosome markers.
This result was higher than that obtained in the analysis with autosomal markers, which
resulted in 82.0%. The results of the study by Purps et al. [24] corroborated the findings of
this research, which was also more successful in the Y-STR analyzes to identify the aggressor
profile. Purps et al. [24] analyzed 287 cases of rape and obtained an aggressor profile in
85.5% of the cases using Y-STR markers and in 74% with the use of autosomal markers.
The lowest success rate obtained with the analysis of the autosomal markers, when
compared to the Y chromosome, in the present study was mainly due to the small amount of
DNA of the aggressor in the sample. When in a genetic mix the proportions of female DNA
are considerably higher than the male DNA, one can observe the allelic dropout of the lowest
taxpayer, usually due to the preferential amplification of the largest contributor, a typical
situation found in samples with vaginal smears from rape. Studies have shown that the minor
component (aggressor) is usually undetectable when the proportions of autosomal DNA are
equal to or less than 1:50 [25,26]. While Y-STR profiles can be obtained in mixtures of male:
female DNA in the ratio of 1: 1,000 [5,13,27], that is even when there is a superior
contribution of the female victim's DNA, up to 1,000 However, it is still possible to obtain
satisfactory results using Y-STR markers.
As for Y chromosome markers, the small percentage of test failure, corresponding to
19 samples, occurred due to the mixture of haplotypes with a non-interpretable genetic
profile, to the amplification with insufficient number of markers, or to the absence of DNA of
male origin. Considering the insertion of 252 Y-STR haplotypes in the BVPG-YSTR
database, 85 matches were obtained between traces of crimes of sexual violence, involving 17
aggressors and 55 victims (Figure 1, Tables 1 and 2). In the study of cases in which genetic
coincidence was observed by the BVPG-YSTR, 45 cases were also reported by the DNA
Databases Goias State (Brazil) (BPG-SPTC/GO), that is, 10 cases of sexual violence were
reported exclusively by the BVPG-YSTR, highlighted in Fig. 1. Thus, the analysis with
markers of the Y chromosome, when combined with the autosomal results, increased by
18.1% the number of informative profiles for the investigation of crimes (Tables 1 and 2).
AGGRESSORS VICTIMS
1 AA AB
2 AD AE
3 AF AG AH AI AJ
4 AK AL AM NA
5 AO AP AQ AR AS
6 AT AU
7 AX AW AV
8 AY BA AZ BB BC
9 BD BE BF BG
10 BH BI
11 BJ BK
12 BL BM
13 BN BO
14 BP BQ BR BS BT BU BV BW
15 BX BY
16 BZ CA
17 CB CC CD
Figure 1 - The BVPG-YSTR reported 85 matches between traces of crimes of sexual violence, involving 17
aggressors and 55 victims. Cases reported in yellow, corresponding to 10 victims, were reported exclusively by
BVPG-YSTR. To preserve the identity of the victims, acronyms were created with alphabetic characters.
The study conducted by Neuhuber et al. [5] in Austria, exhibited the relevance of
DNA testing involving Y chromosome analysis in sex crime events. The sample group of this
study comprised cases that presented negative test for spermatozoa research. In 38 of a total
of 239 sexual offences a perpetrator trace was identified solely using Y-STR analysis. Based
on the findings, the Austrian National DNA Database - has been expanded to include markers
of the Y chromosome. The potential of the forensic Y-STR bank has been demonstrated with
a small number of haplotypic profiles of inserted traces. The authors concluded that the results
reported by the bank should increase as the bank is fed and are expected to elucidate serial
crimes, however, have warned the sensible interpretation of the results, especially considering
the inherited transmission of Y chromosome markers.
In the research conducted by Purps et al. [24], samples from 287 cases of crimes of
sexual violence were examined. Of the cases analyzed, 133 complete haplotypic profiles were
obtained, a fact that added in 21% the number of informative profiles when compared to the
results obtained exclusively by autosomal markers. According to the research, if samples were
not submitted to Y-STR markers, 10% of the cases would be inconclusive.
It is also estimated that the results of Y-STR database may be more relevant when
negative result for cytological spermatozoa research are inserted [5]. In these situations, the
matches obtained by the BVPG-YSTR can provide elements for initiating an investigation by
linking several victims to an author, which can be developed by comparing other material
evidence such as modus operandi, the crime scene, the physical characteristics of the author,
the description of the used motor vehicle and the testimony of eyewitnesses. However, the
block transmission of Y chromosome genes in the interpretation of Y-STR match results
should be considered, that is men belonging to the same patrilineal lineage have the same
genetic information.
The negative result for cytological spermatozoa research may mask the hypothesis
of carnal conjunction. However, it is possible to obtain a genetic profile using Y-STR markers
of aggressor epithelial cells detached during sexual intercourse or other nucleated cells
present in the seminal fluid, such as leukocytes and immature germ cells. Y-STR genetic
profiles are promising genetic tools when the analysis with autosomal markers is
inconclusive, such as sexual assaults perpetrated by vasectomized, azoospermic or sexual acts
in which there was no ejaculation [5,24]. Thus, genetic exams with Y chromosome markers
can add to the production of material evidence from criminal investigations for the ability to
detect traces of male DNA, especially when there is a predominance of the victim's DNA
relative to that of the offender.
In the study developed by De Paula [28], it was observed that in 43% of sex crime
samples with a negative result for cytological spermatozoa research the presence of DNA of
male origin was detected with the use of markers of the Y chromosome, a fact that contributed
to the change in the laboratory routine of the DNA Institute of the Civil Police of the Federal
District, Brazil (IPDNA/DF). After the study, the IPDNA/DF began to submit these samples
to the genetic analysis with the perspective of assisting in the identification of rapists.
Considering the data presented, it is important to perform DNA analysis with Y
chromosome markers for all cases of sexual crime, including those that had negative results
for cytological spermatozoa research. In these cases, in particular, Y-STR database will be
able to manage haplotypic profiles and bring important information to solve crimes from the
identified genetic coincidences, just as occurred in Austria [5]. Having genetic evidence that
links different victims of sexual crimes can help the judicial police initiate an investigative
plan and, consequently, have evidence to follow up on the judicial process and punishment of
the crime.
4. Conclusion
The results of the survey showed that in 18.1% of the cases of sexual violence,
genetic coincidences were reported exclusively by the BVPG-YSTR, which means that in
almost 1/5 of the cases the analysis with markers of the Y chromosome added information to
the investigation of serial crimes. In view of the results presented, the use of BVPG-YSTR
showed promising elucidation of sexual crimes, especially in cases where there are autosomal
genotypes, but which do not meet the admissibility requirements in the DNA Databases Goias
State (Brazil) (BPG-SPTC/GO). Thus, the profile database Y-STR can act as a tool to identify
and correlate the cases of serial crime perpetrated by a possible aggressor. Authorship can be
achieved by manually analyzing and comparing autosomal outcomes.
Acknowledgements
This study was supported by the Superintendence of Technical and Scientific Police of Goiás
State (SPTC-GO) and the Health Department of the State of Goiás (SES/GO). Arão, GOL
was sponsored by a scholarship from Foundation for Research Support of the State of Goiás -
FAPEG (#201710267000590).
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Table 1. Matches reported by BVPG-YSTR.
Y-STR
Year
profiles Coincident autosomal profiles between Sample inserted in the Sample inserted in
Aggressor of the Victim County
coincident AQs BVPG-YSTR the BPG-SPTC/GO
offense
between AQs
2013 AA Goiânia Yes Yes Yes Yes
1
2013 AB Goiânia Yes Yes Yes Yes
Coincident
Y-STR profiles Sample inserted Sample inserted
Year of the autosomal
Aggressor Victim County coincident in the BVPG- in the BPG-
offense profiles between
between AQs YSTR SPTC/GO
AQs
Aparecida de
2010 AY Yes Yes Yes Yes
Goiânia
Bela Vista de Yes (the profile did not meet the insertion
8 2015 AZ Yes Yes (majority profile) No
Goiás criteria in BPG-SPTC/GO)
Aparecida de
2016 BA Yes Yes Yes Yes
Goiânia
Aparecida de
2016 BB Yes Yes Yes Yes
Goiânia
Aparecida de
2014 BG Yes Yes Yes Yes
Goiânia
Aggressor Year of the Victim County Y-STR profiles Coincident Sample inserted Sample inserted
offense coincident autosomal in the BVPG- in the BPG-
between AQs profiles between YSTR SPTC/GO
AQs
12
Yes (the profile did not meet the insertion
2017 BM Senador Canedo Yes Yes No
criteria in BPG-SPTC/GO)
Aparecida de
2016 BS Yes Yes Yes Yes
Goiânia
Aparecida de
2016 BV Yes Yes Yes Yes
Goiânia
Coincident
Y-STR profiles Sample inserted Sample inserted
Year of the autosomal
Aggressor Victim County coincident in the BVPG- in the BPG-
offense profiles between
between AQs YSTR SPTC/GO
AQs
AA 16 13 24 28 17 14 11 -- 13 14 11 12 23 13 12 15 12 19
1
AB 16 13 24 28 17 14 11 -- 13 14 11 12 23 13 12 15 12 19 18 22 12 17
AD 16 14 21 30 18 15 16 -- 18 14 10 12 23 11 10 14 11 21 16 26 12 17
2
AE 16 14 21 30 18 15 16 -- 18 14 10 12 23 11 10 14 11 21 16 26 12 17
AF 15 14 24 30 17 14 13 -- 15 13 10 12 21 11 11 14 9 19
AG 15 14 24 30 17 14 13 -- 15 13 10 12 21 11 11 14 9 19
3 AH 15 14 24 30 17 14 13 -- 15 13 10 12 21 11 11 14 9 19
AI 15 14 24 30 17 14 13 -- 15 13 10 12 21 11 11 14 9 19
AJ 15 14 24 30 17 14 13 -- 15 13 10 12 21 11 11 14 9 19
AK 15 14 22 30 17 14 10 -- 14 13 11 12 23 13 12 15 10 19 18 22 12 17
AL 15 14 22 30 17 14 10 -- 14 13 11 12 23 13 12 15 10 19 18 22 12 17
4
AM 15 14 22 30 17 14 10 -- 14 13 11 12 23 13 12 15 10 19 18 22 12 17
AN 15 14 22 30 17 14 10 -- 14 13 11 12 23 13 12 15 10 19
Aggressor Víctim DYS456 DYS389I DYS390 DYS389II DYS458 DYS19 DYS385 DYS393 DYS391 DYS439 DYS635 DYS392 YGATAH4 DYS437 DYS438 DYS448 DYS576 DYS481 DYS533 DYS570 DYS627 DYS460 DYS518 DYS449 DYF387S1
AO 15 13 21 31 17 15 16 -- 18 13 10 12 21 10 12 14 11 21 17 27 11 21
AP 15 13 21 31 17 15 16 -- 18 13 10 12 21 10 12 14 11 21 17 27 11 21
5 AQ 15 13 21 31 17 15 16 -- 18 13 10 12 21 10 12 14 11 21 17 27 11 21
AR 15 13 21 31 17 15 16 -- 18 13 10 12 21 10 12 14 11 21 17 27 11 21
AS 15 13 21 31 17 15 16 -- 18 13 10 12 21 10 12 14 11 21 17 27 11 21
AT 16 13 24 30 18 15 11 -- 13 13 11 12 23 13 12 14 12 18 20 23 11 17
6
AU 16 13 24 30 18 15 11 -- 13 13 11 12 23 13 12 14 12 18 20 23 11 17
AX 15 13 24 29 15 15 12 -- 13 13 10 12 25 13 12 15 11 18 17 24 13 16 19 10 37 27 35 -- 38
7 AW 15 13 24 29 15 15 12 -- 13 13 10 12 25 13 12 15 11 18 17 24 13 16
AV 15 13 24 29 15 15 12 -- 13 13 10 12 25 13 12 15 11 18 17 24 13 16
AY 16 13 23 30 15 13 17 -- 19 13 10 12 22 11 12 14 9 19 18 22 12 20
AZ 16 13 23 30 15 13 17 -- 19 13 10 12 22 11 12 14 9 19 18 22 12 20 19 10 37 36 36 -- 38
8 BA 16 13 23 30 15 13 17 -- 19 13 10 12 22 11 12 14 9 19 18 22 12 20 19 10 37 36 36 -- 38
BB 16 13 23 30 15 13 17 -- 19 13 10 12 22 11 12 14 9 19 18 22 12 20 19 10 37 36 36 -- 38
BC 16 13 23 30 15 13 17 -- 19 13 10 12 22 11 12 14 9 19 18 22 12 20 19 10 37 36 36 -- 38
BD 15 13 25 31 17 13 14 -- 14 13 11 12 23 14 13 15 11 20 17 25 11 15
BE 15 13 25 31 17 13 14 -- 14 13 11 12 23 14 13 15 11 20 17 25 11 15 18 10 40 29 35 -- 38
9
BF 15 13 25 31 17 13 14 -- 14 13 11 12 23 14 13 15 11 20 17 25 11 15 18 10 40 29 35 -- 38
BG 15 13 25 31 17 13 14 -- 14 13 11 12 23 14 13 15 11 20 17 25 11 15
BH 17 13 23 29 16 14 12 -- 13 13 11 23 12 12 15 12 19 19 24 12 18 23 10 39 30 35 -- 37
10
BI 17 13 23 29 16 14 12 -- 13 13 11 23 12 12 15 12 19 19 24 12 18 23 10 39 30 35 -- 37
BJ 16 14 24 30 18 13 13 -- 14 13 9 10 21 11 11 14 10 20 18 27 11 22 18 11 43 33 37 -- 37
11
BK 16 14 24 30 18 13 13 -- 14 13 9 10 21 11 11 14 10 20 18 27 11 22 18 11 43 33 37 -- 37
12 BL 15 12 22 30 14 14 15 -- 15 13 10 12 19 11 11 17 10 20 16 24 12 18
Aggressor Víctim DYS456 DYS389I DYS390 DYS389II DYS458 DYS19 DYS385 DYS393 DYS391 DYS439 DYS635 DYS392 YGATAH4 DYS437 DYS438 DYS448 DYS576 DYS481 DYS533 DYS570 DYS627 DYS460 DYS518 DYS449 DYF387S1
BM 15 12 22 30 14 14 15 -- 15 13 10 12 19 11 11 17 10 20 16 24 12 18 18 11 35 37 37 -- 38
BN 15 14 23 30 17 13 13 -- 14 13 9 10 21 11 12 14 10 20
13
BO 15 14 23 30 17 13 13 -- 14 13 9 10 21 11 12 14 10 20
BP 15 13 22 30 18 15 14 -- 15 13 11 12 21 10 11 16 10 21 14 21 10 20 19 11 40 33 36 -- 39
BQ 15 13 22 30 18 15 14 -- 15 13 11 12 21 10 11 16 10 21 14 21 10 20
BR 15 13 22 30 18 15 14 -- 15 13 11 12 21 10 11 16 10 21 14 21 10 20 19 11 40 33 36 -- 39
14 BS 15 13 22 30 18 15 14 -- 15 13 11 12 21 10 11 16 10 21 14 21 10 20 19 11 40 33 36 -- 39
BT 15 13 22 30 18 15 14 -- 15 13 11 12 21 10 11 16 10 21 14 21 10 20 19 11 40 33 36 -- 39
BU 15 13 22 30 18 15 14 -- 15 13 11 12 21 10 11 16 10 21 14 21 10 20 19 11 40 33 36 -- 39
BV 15 13 22 30 18 15 14 -- 15 13 11 12 21 10 11 16 10 21 14 21 10 20 19 11 40 33 36 -- 39
BW 15 13 22 30 18 15 14 -- 15 13 11 12 21 10 11 16 10 21 14 21 10 20 19 11 40 33 36 -- 39
BX 15 13 21 30 16 15 15 -- 16 13 11 11 20 11 12 14 11 21 15 28 11 20 20 10 38 27 37 -- 40
15
BY 15 13 21 30 16 15 15 -- 16 13 11 11 20 11 12 14 11 21 15 28 11 20 20 10 38 27 37 -- 40
BZ 16 24 19 13 14 -- 18 13 10 14 11 11 20 17 23 13 17 18 10 38 32 37 -- 39
16
CA 16 24 19 13 14 -- 18 13 10 14 11 11 20 17 23 13 17 18 10 38 32 37 -- 39
CB 14 13 24 29 17 14 12 -- 14 13 10 13 23 13 12 15 12 18 19 22 12 18
17 CC 14 13 24 29 17 14 12 -- 14 13 10 13 23 13 12 15 12 18 19 22 12 18
CD 14 13 24 29 17 14 12 -- 14 13 10 13 23 13 12 15 12 18 19 22 12 18