P-058
Frequency data for the STR locus
SE33 in a population sample from Brescia
(northern Italy)
Cerri N, Verzeletti A, Bandera B, De Ferrari F
Department of Forensic
Medicine, University
of Brescia, Brescia, Italy
Short tandem repeat (STR)
markers are widely used in forensics as well in paternity testing, but before a
new locus can be introduced in the current practice a database for the relevant
population must be established to evaluate its effectiveness in forensic
identification and paternity testing. In Italy there are already data
regarding a lot of STR, but few data about SE33. This locus is one of the most
informative tetranucleotide short tandem repeat loci used for human
identification and paternity testing and due to its extensive polymorphism, the
Federal Criminal Police Office of Germany has included SE33 as one of the eight
core genetic loci with witch to establish a database.
A total of 90 unrelated
individuals from Brescia
region were typed. Genomic DNA was extracted using Chelex-100 procedure from
whole blood or buccal swabs. PCR was performed in a GeneAmp PCR System 2400
(PE) using the commercial kit AmpFlSTR®SEfilerTM (Applied
Biosystems, Foster City, CA, USA) according to manufacturer’s recommendations.
Typing was performed by capillary electrophoresis (ABI Prism 310 Genetic
Analyzer, ABI). Allele scoring for this locus was obtained by comparison to
AmpFlSTR®SEfilerTM Allelic Ladder (Applied Biosystems, Foster City, CA,
USA) and all
alleles were designated according to the recommendations of GEDNAP.
This work provides a picture
of allelic and genotypic frequencies for SE33 from Brescia region. As expected the preliminary
results in the distribution of allelic and genotypic frequencies in our
population sample are close to those found in the caucasian population.
P-059
Population data for 4 X-Chromosomal
STR loci in a population sample from Brescia
(northern Italy)
Cerri N, Verzeletti A, Gasparini F, Bandera B, De
Ferrari F
Department of Forensic
Medicine, University
of Brescia, Brescia, Italy
Short tandem repeat markers on
the X chromosome are the natural counterpart to the well-established
Y-chromosome STR loci and they have proven to provide useful tools in paternity
cases with female offspring or in forensic identification cases based on the
comparison with first or second degree relatives.
But before a new locus can be
introduced in the forensic current practice a database for the relevant
population must be established to evaluate its effectiveness. Because of the
few population data regarding X-chromosme STR loci in Italy, 90
unrelated individuals (50 females and 40 males) from Brescia region were typed for the STR-loci
DXS8378, DXS7132, HPRTB, DXS7423.
Genomic DNA was extracted
using Chelex-100 procedure from whole blood or buccal swabs. PCR was performed
in a GeneAmp PCR System 2400 (PE) using the commercial kit Mentype Argus X-UL
(Biotype AG, Dresden, Germany) according to manufacturer’s recommendations.
Typing was performed by capillary electrophoresis (ABI Prism 310 Genetic
Analyzer, ABI). Allele scoring for these loci was obtained by comparison to
Mentype Allelic Ladder (Biotype AG, Dresden,
Germany).
This work provides a picture
of allelic, genotypic and haplotypic frequencies for 4 X Chromosome STR loci
from Brescia
region. As expected the preliminary results in the frequencies distribution in
our population sample are close to those found in the caucasian population.
P-060
Genetic
characterization of Y-STR in the Korean populations of the southern region
Byung-Won
Chun1, Sang-Churl Shin1, Yang-Jung Kim1,
Kyung-Lyong Lee1, Pil-Won Kang1, Kwang-Hoon Kim1,
Kyung-Sook Kim2, Dong-Ho Choi2, Myun-Soo Han2
1 Department
of Forensic Medicine, Southern District Office of NISI, Busan, Republic of
Korea; 2 Department of DNA Analysis, National Institute of
Scientific Investigation, Seoul, Republic of Korea
Y
chromosomal haplotypes of 12 polymorphic loci (DYS391, DYS389l, DYS439,
DYS389ll, DYS438, DYS437, DYS19, DYS392, DYS393, DYS390, DYS385 a/b) were
analyzed in samples from a total of 762 males in eight Korean sub-populations
and 30 Chinese males. 208 Japanese males and 196 randomly sampled Korean males
were used to survey the genetic structure among the sub-populations in Korea and the
relationship between the northeast Asian populations. The Japanese and the
randomly sampled Koreans of these populations were haplotype data. The results
showed 589 different types of haplotypes from 762 Koreans with no blood
relationship. Of these, 3 haplotypes were found in all 8 groups. They were the haplotype H305:
10-14-12-29-13-14-16-13-13-23-10,19; H311: 10-14-12-29-13-14-16-13-13-23-10,18;
and H218: 10-14-12-29-13-14-16-13-13-23-10,17(DYS391-DYS389l-DYS439-DYS389ll-DYS438-DYS437-DYS19-YS392-DYS393-DYS390-DYS385a/b).
These three haplotypes also showed the highest frequency, indicating that they
are likely to be the genetic type of the common ancestors of the southern
Korean population. From the haplotype information of 8 southern Korean
populations along with the Chinese and Japanese populations, the Jeonnam
population showed the highest number of haplotypes (113/119, 95%), unique
haplotypes (108/119, 91%), haplotype diversity (0.9990) and discrimination
capacity(0.9495) among the 8 populations.
The Geoje population had the lowest number of haplotypes (79/98, 80%),
unique haplotypes (67/98, 68%), haplotype diversity (0.9944), and
discrimination capacity (0.8061). These results can be explained by the founder
effect as shown in the allele frequency distribution analysis. The fact that
509 unique haplotypes were found from 762 southern Koreans suggests that there
was a significant influx of outside populations considering that there are only
270 family names in Korea.
Within the southern Korean populations, the pairs that had the most shared
haplotypes in order were Jeonnam-Andong, Jeonbuk-Geoje, Gyeongnam-Jeonnam &
Andong, Gyeongbuk-Gochang and Jeju-Gochang. This shows that there was active
interbreeding in the past regardless of the region. The phylogenetic tree
analysis using the genetic distance, which is determined by allele frequency,
shows that the Honshu-Japanese population had the closest genetic relationship
with Jeonbuk, followed in order by
Geoje-Gochang-Gyeongnam-Jeonnam-Gyeongbuk-Andong-Jeju populations. The fact
that Keoje showed the second closest genetic relationship with the
Honshu-Japanese population can be explained by the fact that it had the most
shared haplotypes with Jeonbuk. This result genetically supports the historical
facts that the Paekje
Kingdom, which was based
on what is now the Jeolla region, had the most interchange with Japan. The
results of this study show that, based on the hypothesis that more than 80% of
the Japanese group had migrated to Japan, the Jeolla region,
especially Jeonbuk, had the closest relations to the migration of southern
Koreans to Japan.
The results of this study constitutes the genetic proof that there was a large
scale migration to Japan when Korea and Japan was connected during the ice age
10,000~15,000 years ago, and that the Paekje kingdom, which was based in the
Jeolla region, was the most influential in the smaller scale migrations since
that time. Contact:
hmyunsoo@nisi.go.kr
P-061
Short
tandem repeat (STR) polymorphisms analysis at 15 loci in Sicilian population:
genetic disequilibrium and allelic frequency
I. Ciuna (1), Maria Guarnaccia (2), E.Ginestra (1), Antonella Agodi (2), D.Piscitello (1), S.Spitaleri (1), Giovanni Marcì (2), Gianluca Paravizzini (2), C.Trapani (1), G. S.Travali (2), and L. Saravo(1)*
1 Laboratory of Molecular Biology –
Raggruppamento Carabinieri Investigazioni Scientifiche (RaCIS), Messina; Italy.
(2) Department of Biomedical Science,, University of Catania, Italy
dNA polymorphic loci are widely utilized
for human genome mapping, to perform linkage analysis, paternity testing and
forensic investigations. The aim of our work was studying allelic frequencies
and distribution within the 15 forensic STR loci in a group of 500 unrelated
Sicilian subjects coming from the nine different counties of the island.
Afterwards we have evaluated the genetic equilibrium among the most recurrent
alleles mapping in the above mentioned loci and have compared our data to those
already published by other authors referring to different populations. Results
shown in table.
Keywords:
DNA
STR typing; STR-DNA database.
*Corresponding author: rismebiologia@carabinieri.it
P-062
Allele
distribution of 6 X-Chromosome STR loci in an Italian Population sample.
Coletti A , Lottanti L , Lancia M , Margiotta G ,
Carnevali E , Bacci M
Section
of Legal Medicine, University
of Perugia, Terni, Italy.
Nowadays several research efforts are
made to evaluate the allelic frequencies of ChrX STRs: chrX STR loci can be
indeed more informative than autosomal loci in such cases as specific paternity
deficiency and complex kinship. This is the reason why it needs to increase the
population data for ChrX STR allelic frequencies and to create a national or
local database to make comparisons with the corresponding population data in a
generalized way.
An esaplex PCR was developed to amplify
DXS6789, HumARA, DXS7423, DXS6807, DXS101 and DXS8377 in some Italian Samples
from Terni.
This system represents a protocol for the Chr X analysis with a shorter
procedure.
The
DNA was extracted from 100 blood samples by using the QIAmp DNA Minikits
produced by Quiagen.
The samples were detected using an ABI
PRISM 310 genetic analyser (Applied Byosistem), by using the following dye
labels: Vic for DXS 6789 and HumARA, Ned for DXS101, Fam for DXS7423 and
DXS6807, and Pet for DXS8377, which are the same dye labels used by Kit
Identifiler: it means using the same mobility files, matrix files and software
parameters.
We performed statistical analyses for
all the loci.
P-063
Tetragametic
chimerism in a true hermaphrodite child
Cólica, MV, Rodríguez Cardozo
MB, Abovich M, Valente, Ribas N, Di Lonardo AM
Banco Nacional de Datos
Genéticos, Unidad Inmunología, Hospital Carlos G. Durand,
J. B. Ambrosetti 743 (1405), Buenos Aires, Argentina
Human congenital chimerism is
due to the
coexistence of two genetically different cell lines either in the whole body or
limited to the blood.
In order to prove the generation mechanism of
congenital chimerism in a hermaphrodite newborn child, we used DNA
polymorphisms of autosomic STRs, chromosome Y and MHC genes in a peripheral
blood sample and genital tissues biopsies. All these genetic markers allow us
to see the mendelian inheritance of genes.
The results obtained from this patient demonstrated
that the most probable cause of congenital chimerism, so called TETRAGAMETIC
CHIMERISM, occurred through the fertilization of two ova by two spermatozoa,
followed by the fusion of the zygotes and the development of an organism with
intermingled cell lines.
* Corresponding author. Tel.: +54 11 4982 1716; fax: +54 11 4982 0625
E-mail address: bndg@infovia.com.ar (A.M. Di Lonardo).
P-064
Ethnic
Contributions to the Extant Population of Argentina: as shown by
uniparentally inherited genetic markers.
Daniel Corach, Andrea Sala and
Miguel Marino
Servicio de
Huellas Digitales Genéticas and Cátedra de Genética y Biología Molécular,
Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires
Junín 956
Ciudad Autónoma de Buenos Aires. Argentina.
The population of Argentina is the result of three
major ethnic contributions. The original population of South
America is of Amerindian ancestry and its arrival from Asia to the New World is
accepted to have occurred over 18.000 years ago. A second contribution was
provided by the Spanish conquerors that arrived to the now a days territory of Argentina in 1536 and maintained their
migration since then. A third contributor was introduced during the seventh
century, as a working force, the slaves imported from West
Africa. At present, it is not possible to distinguish the presence
of African phenotypes in our population; however its genetic contribution can
be traced. Finally, during the late XIX and early XX centuries an intense
migration wave from Europe and Near East occurred. The history of the admixed Argentina can
be traced back to 19 generations and a big deal of admixture might have taken
place.
In order to investigate the ethnic contribution to the
extant population of Argentina
a set of 322 unrelated males inhabiting 10 provinces of Argentina were
selected at random from samples of routine forensic casework. Three major
geographic regions were considered: Northeastern (Formosa, Chaco,
Corrientes and Misiones Provinces, N=102), Center (Buenos Aires, Santa Fe and Entre Rios
Provinces, N=120) and
South Southwestern (Mendoza,
Rio Negro and Chubut Provinces,
N=100). DNA was extracted from blood samples. Each sample was analyzed by 15
autosomal STRs included in PowerPlex16 and the uniparentally inhereted genetic
markers including: the SNP DYS199, nine Y-STRs (DYS19, DYS385a/b, DYS389I/II,
DYS390, DYS391, DYS392 and DYS393); mtDNA D-Loop sequence at HVR I and II; and
the ins/del of 9bp at Region V. The use of well defined Amerindian
uniparentally inhereted genetic markers could determine the ancestry of the
individuals that belong to aboriginal or non-aboriginal patri or matrilineages.
Mitochondrial DNA analysis allowed us to detect the presence of the main four
Amerindian specific as well as European and African haplogroups. The analysis
of Y-chromosome markers allowed to find Amerindian specific polymorphism (such
as DYS199 T). The results were analyzed considering the geographical regions
from where the samples were obtained in order to assess their similarities. The
overall results suggest that 58% of the individuals belong to one of the major
Amerindian mtDNA haplogroups (A: 13,44%, B: 35,48%; C: 34,4% and D:
16,66%), 18% showed the DYS199 T
variant; 12% belongs to both Amerindian matri and patri lineages and 36% of the
total exhibit non-Amerindian lineages. The analysis of these results by
geographical areas showed a good correlation with historical and geographical
records. The results presented in this work supports previous investigations
based on blood groups and autosomal genetic markers analyzed in urban
population of different cities of Argentina.
P-065
Validation of
the AmpFlstr® SEfiler™ kit
Cordoba S., Alape J., Camargo M.
Grupo de Genética Forense-
Convenio INMLyCF-ICBF.
Instituto Nacional de Medicina
Legal y Ciencias Forenses.
Bogotá – Colombia
The use of
new STR markers (SE33) includes at the AmpFlstr®
SEfiler™ kit is of grate utility in different cases at the laboratory
especially in cases of Paternity and
forensic investigations. With this marker is possible to increase the
probability due to its high polymorphism.
Recently it has been great
improvement in commercial kits that offer large multiplex reactions in a single
step, systems whit high discrimination power and reliable and reproducible
results.
The AmpFlstr®
SEfiler™ kit the recent commercial
product of Appiled Biosystems that offers 11 STR from human autosomes
chromosomes D2S1338, D3S1358, D8S1179, D16S539, D18S51, D19S433, D21S11,
HUMFGA, SE33, HUMTHO1, HUMvWA, and amelogenin.
In this work
several aspects were assayed. Differences in extraction methods, differents PCR
reactions volume, sensitivity and specificity and application on pathernity
cases. The assays were evaluated at the ABI PRISM 3100 genetic analyzer using
different qualities controls.
P-066
Isolation of DNA
using IsoCode Cards
Cordoba S., Prieto A., Camargo M.
Grupo de Genética Forense-
Convenio INMLyCF-ICBF.
Instituto Nacional de Medicina
Legal y Ciencias Forenses.
Bogotá - Colombia
The use of
new device for DNA isolation (IsoCode Card) for amplification from Blood and
saliva, is of grate utility at the
laboratory especially in cases of Paternity.
The recent
commercial product does not require the use of organic solvents, the procedure
is easy and permit a rapid isolation of DNA for use in amplification reactions.
In this work
several aspects were assayed: different body fluid samples, different washes
and elution volumes, amplification with different commercial kits and others.
The assays were evaluated at the ABI PRISM 3100 genetic analyzer using
different qualities controls.
P-067
The DNA extraction from pulp dentine complex of both
with and without carious teeth
Corte-Real A1, Carvalho M2,
Anjos MJ2, Andrade L2, Vide MC2, Corte-Real F3
1Faculty of
Medicine. University
of Coimbra 3000 Coimbra. Portugal 2Forensic
Genetic Service. National Institute of Legal Medicine. Largo
da Sé Nova, 3000 Coimbra. Portugal
3National
Institute of Legal Medicine. Largo da Sé Nova, 3000 Coimbra. Portugal
Looking across the various forensic environmental conditions, the teeth constitute a valuable source of DNA and therefore of particular interest for casework analysis.
The main objective of this paper is to show that, despite some adverse forensic condition such as degraded human body remains and exhumed material, the dentine (in pulp dentine complex) keeps, in the majority of cases, its integrity.
In this study we use a sample of thirty human teeth (both with and without carious) after extraction during dental treatment. We analyze fifteen STRs and both high variable regions I and II of mitochondrial DNA.
Each tooth was prepared using a technique that comprises the mechanic removal of the enamel, central pulp and cement. The DNA extraction was carried out with a commercial kit but the protocol was adjusted according to the specificities of the sample. This procedure has allowed us to obtain a genetic profile of mitochondria DNA in all the samples as well as to define a profile of STRs in some of them.
P-068
A single assay for
human-specific quantification of less than one picogram DNA and detection of
the presence of PCR inhibitors in forensic samples
Costello MT, Schumm, JW
The Bode Technology Group; 7364 Steel Mill Rd.;
Springfield, VA 22150; USA.
We describe the development, validation, and
application of a duplex real-time PCR assay for human-specific quantification
of DNA samples containing as little as 0.5 pg/µl of DNA. The assay
simultaneously detects PCR inhibitors within the sample. It is important to
include human-specific quantification of DNA in casework sample analysis to
insure successful DNA amplification and profiling. Much recent research has focused on the use
of real-time quantitative PCR to achieve this goal. This approach is less labor intensive, less
time consuming, more accurate, and lends itself to automation better than
previous methods such as slot-blot hybridization (1). Our work builds on that described by Nicklas and
Buel (2), Richard et al. (3), and the commercially available Quantifiler™ Kit
(Applied Biosystems, Foster City,
CA). We have combined the
sensitivity and human specificity of Alu-based real-time quantification
with the presence of an internal positive control allowing detection of PCR
inhibitors in the sample. Alu sequences are short, repeated elements
that are interspersed throughout the primate genome in upwards of 500,000
copies. We selected the Yb8 subfamily of
Alu genes because of its sequence specificity to higher primates
(4). Using this target, we developed
primers and a fluorogenic probe for a quantitative real-time PCR assay
(5). The assay also contains an
internal positive control (IPC) system that is multiplexed with the Alu quantification
system, consisting of a fixed quantity of non-human DNA template added to each
reaction well, and a second set of primers and fluorogenic probe specific for
the non-human template. The combination of human DNA quantity data from the Alu
system and DNA quality data from the IPC system provides the analyst with
substantial information to aid in deciding dilution or concentration schemes
prior to STR amplification, thereby significantly reducing the number of
samples that need to be re-evaluated following initial profiling. Validation
work indicates the assay is accurate and precise in the range of 50 ng/µl to
0.5 pg/µl. Thus less than one human
genome equivalent can be detected accurately. Species specificity tests
indicate the assay is at least 5000 times more specific for higher primate DNA
than any other species tested. The IPC system is very sensitive to inhibition
observed with addition of hematin, indigo, or humic acid. The assay has been
successful with a variety of non-probative sample types.
1. The features of this assay will
allow us to apply it very effectively to evaluation of touch evidence samples.
With so little sample available in these situations, it is critical to make the
right decision to use more or less extracted DNA in the first profiling test.
REFERENCES: 1. Walsh PS, Varlaro J, Reynolds R. A Rapid Chemiluminescent Method for
Quantitation of Human DNA. Nucleic Acids Res. 1992; 20:5061-5.
2. Nicklas JA, Buel E. Development of an ALU-based, Real-time PCR
Method for Quantitation of Human DNA in Forensic Samples. J Forensic Sci. 2003; 48(5):935-44.
3.
Richard ML, Frappier RH, Newman JC.
Developmental Validation of Real-Time Quantitative PCR Assay for
Automated Quantification of Human DNA. J Forensic Sci. 2003;
48(5):1041-6.
4.
Carroll ML, et al. Large-Scale
Analysis of the Alu Ya5 and Yb8 Subfamilies and their Contribution to Human
Genomic Diversity. J Mol Biol. 2001; 311:17-40.
5. Holland PM, Abramson RD, Watson R, Gelfand, DH.
Detection of specific polymerase chain reaction product by utilizing the 5´–3´
exonuclease activity of Thermus aquaticus DNA polymerase. Proc Natl Acad Sci USA. 1991;
88:7276–7280
6. P-069
Allele
distribution at two STR loci (D15S642 and D15S659) in the Croatian population
Crkvenac Gornik K1,
Stingl K 2, Kerhin Brkljacic V2, Grubic Z2
1Department of Genetic and Metabolism, Paediatric
Clinic,
2Tissue Typing Centre, University Hospital
Zagreb, Croatia
Population
studies of two STR loci (D15S642 and D15S659) were carried out in a sample of
130 unrelated healthy individuals. After PCR amplification samples were run on
6% polyacrylamide gel in automated sequencer (ALFexpress). Twelve different
alleles were identified at D15S642 locus and 11 alleles at D15S659 locus. The most frequent alleles at D15S642 were: allele 2
(16.7%), allele 8 (16.3%) and allele 9 (14.0%), while the most frequent
genotype was: 2-2. Among 11 different alleles at D15659 the most frequent were:
allele 9 (22.1%), allele 3 (19.1%) and allele 8 (18.4%). Genotype 9-8 showed
the highest frequency (9.6%) at D15S659 locus. The observed
heterozygosities for these two loci were 0.81818 for D15S642 and 0.83088 for
D15S659. PIC was calculated as follows: 0.88 for
D15S642 and 0.83 for D15S659. No significant deviations from Hardy-Weinberg
equilibrium could be observed for these systems. The results indicate that
these two loci are useful genetic markers for paternity testing as well as for
prenatal or postnatal diagnosis.
P-070
Genetic data for the locus
SE33 in a South Portuguese population with
Powerplex® ES System
Cruz C, Vieira-Silva C, Ribeiro T, Espinheira R
Forensic Genetics Service,
National Institute of Legal Medicine, Lisbon
The
SE33 (ACTBP2) locus is one of the most informative short tandem repeat systems
for human identification.
The
aim of this study was to establish the allele frequencies distribution of SE33
locus in a south portuguese population, which can be used for forensic
purposes.
Blood
samples for paternity testing were obtained in Bloodstain Cards from 328
unrelated individuals, residing in the south of Portugal. DNA was extracted by the
Chelex-100 method and the SE33 locus was amplified using the Powerplex® ES
System (Promega Corporation, Madison WI, USA) according to manufacturer
instructions. The amplified products were separated in an ABI PRISM 3100
Automatic DNA Sequencer. The data were analysed by Genescan® Analysis 3.7 and
Genotyper® 3.7 software.
The
allele frequencies and forensic parameters of interest were calculated and the
Hardy-Weinberg equilibrium was evaluated. A comparison with others populations
was performed.
A
total of 170 genotypes and 38 alleles were observed. The most common alleles
were 16 and 29.2 (73,2%). It was detected an out of ladder allele (39.2).
Heterozygosity
and power discrimination values confirm the high degree of polymorphism and
discriminating power of this locus.
This
study demonstrated that SE33 is a useful locus for forensic identification that
should be added to the set of STRs loci routinely studied in order to increase
the discrimination potential, namely in complex cases which involve relatives.
contact:
genetica@dlinml.mj.pt
P-071
Identification
in forensic anthropology and its relation to genetics
Cunha E, Pinheiro
J, Soares I, Vieira D N.
Instituto Nacional de Medicina Legal, Delegação de
Coimbra.Coimbra, Portugal
The aim of this communication
is to call the attention to the fact that DNA can not replace the
anthropological analysis. If, in one hand some of the benefits of genetic
analysis are their exclusive, on the other, a genetic profile can not provide
data on some of the basic parameters of the biological profile, such as age at
death and stature. Thus, it is the combination of both anthropological and
genetic expertises that can indeed lead to a positive identification. Without a
biological profile given by the anthropological expertise, the DNA could be
usefulness.
We here present two cases which
can be considered antagonic. In the first, identification was confirmed by
genetics, while in the second genetics was not conclusive. The former one,
concerns a body re-examination in the Pico Island
(Azores) by a forensic anthropologist of the
National Institute of Forensic Medicine. A complete skeletonized victim of a
homicide was recovered from the field after denunciation by one of the murder
witnesses. At that time, around one year after the crime had been committed;
the victim was autopsied and buried. It was supposed to be a luso-american
individual and DNA analysis were done to confirm his identity. Although the
genetic profile was accomplished, the prosecutor did not accept it as an
unequivocal identity proof, since it could also be compatible with eventual
existing brothers. Consequently, further data was required, namely dental
charts which were sent to be matched with the victims’ one. As this matching
was problematic, the victim was exhumed and a second autopsy was then
performed. Besides the verification of correspondence between ante and post
mortem dental records, a thorough anthropological analysis led to the
achievement of a much more reliable characterization of the individual.
In the second case study the
body was autopsied by a forensic pathologist and a forensic anthropologist at
the Office of Forensic Medicine of Viseu (Gabinete Médico-Legal de Viseu).An
almost complete skeleton from an isolated site in the field, missing the bones
of extremities, was found superficially buried, 15-20 cm depth by a rural
worker. The biological profile, achieved by anthropological and odontological
analyses, matched with a missing individual in the area who was disappeared for
four years. DNA analyses performed on bone and teeth samples later on, once compared
with the one of a relative, confirmed the individual’s identity. The victim was
suspected to have been murdered by his wife and daughters. However, on the
basis of the skeletal remains, it was not possible to establish the cause of
death. Since this person was reported as missing, the genetic profile of the
victims’ relatives was already available at the National Institute of Forensic
Medicine for matching leading to an easy confirmation of identity already
suspected by the anthropological multidisciplinary expertise.
We argue that it is important
for the forensic community and even to the general public to be aware both of
the benefits and drawbacks of genetic analysis when leading with non-identified
human remains. Genetics is really a fantastic tool in identification. However,
it is not the only step. In spite of one of the advantages of genetics is being
able to supply a quantitative result, which makes possible to provide the
probability that another person shares the same genetic assert, the lack of
relatives to compare with, sometimes invalidates its usefulness. In these
circumstances the classical anthropological analysis remains as valid as ever.
P-072
LR-calculation
of any kinship situation using a graphical interface: generate two or more hypotheses,
draw the family trees and assign the DNA-profiles to person symbols
Dajda T, Jung M
bj-diagnostik GmbH, Kerkrader
Str. 11, 35394 Giessen, Germany
Based
on an idea of Ihm and Hummel (Z. Immun. Forsch. 149, 405-416, 1975) and the
kinship-algorithm by C.H. Brenner (Genetics, 145, 535-542, 1997) we developed a
graphical interface to allow an intuitively construction of alternative family
trees represented by two or more hypotheses. The family tree can be constructed
like with a graphics design programme. The LR formulas/results will be
generated accordingly to the family tree and hypotheses. Drop person symbols
and draw the connection lines between them with a computer mouse. Silent
Alleles and mutations can also be treated. A simulation module allows
calculations for any kinship scenario (the number of markers and the number of
persons can be varied). This module be used to plan a DNA-analysis in a
deficiency case (how many markers, which persons should be tested).
Contact: michael.jung@bj-diagnostik.de
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