Forensic Science International 201 (2010) 160164

Contents lists available at ScienceDirect

Forensic Science International

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

Review

Genetic identication in the 21st centuryCurrent status and future

developments
Ronny Decorte a,b,*
a
University Hospitals Leuven, Department of Forensic Medicine, Leuven, Belgium
b
University of Leuven, Department of Human Genetics, Leuven, Belgium

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

Article history: In 2010, it is the 25th anniversary of the rst paper describing the genetic identication of human
Received 2 February 2010 individuals by DNA ngerprint analysis. Since then DNA analysis has become a major tool to relate
Accepted 23 February 2010 biological evidence to the persons involved in a crime or to determine the biological relationship among
Available online 28 March 2010
individuals. The currently used methodology is the result of major technological changes that were
partly driven by criticism on previous methodologies, and partly driven by demand especially due to
Keywords: mass disasters such as the 9/11 attack on the World Trade Center in New York. This review will give an
DNA proling
overview of the current methodology in genetic identication and new developments that will have a
Genetic identication
Physical traits
future impact on forensic identication.
Geographic origin 2010 Elsevier Ireland Ltd. All rights reserved.

1. From DNA ngerprinting to DNA proling
In 1985, Alec Jeffreys published the rst paper describing the
use of DNA analysis for the genetic identication of biological
samples or human individuals [1,2]. At that time, it was a major
breakthrough in forensic identication as most procedures were
based on the analysis of protein or blood group polymorphisms.
These old systems suffered from a low degree of discrimination
(except for HLA) and their use was limited to samples that did not
show any degradation. DNA was much more powerful as it
overcame these restrictions and made it possible to identify each
individual with certainty, hence the term DNA ngerprint analysis
[36]. Since 1985, the eld of forensic DNA analysis rapidly
changed partly driven by criticism on the technology and how it
was implemented by forensic laboratories [713] and partly by
major events that triggered the development of more sensitive
methodologies.
The initial method developed by Jeffreys was based on the
analysis of minisatellite loci under non-stringent hybridization
conditions which generated a DNA pattern unique to each
individual except for identical twins [2]. However, DNA nger-
printing was difcult to perform in the lab and sometimes
differences in the results could be observed depending which lab
* Correspondence address: University Hospitals Leuven, Department of Forensic
Medicine, Laboratory of Forensic Genetics and Molecular Archaeology, Kapucij-
nenvoer 33, B-3000 Leuven, Belgium. Tel.: +32 0 16 345860; fax: +32 0 16 345997.
E-mail address: ronny.decorte@uzleuven.be.
the analysis had performed. In addition, the amount of DNA
necessary to obtain results limited the number of biological
samples for forensic DNA analysis. It was clear that the sensitivity
of the method had to be improved in order to apply DNA analysis to
more cases and samples, and that the methodology should change
to less disputable methods. By the end of the 1980s, DNA proling
replaced DNA ngerprinting which was based on the analysis of
minisatellite or variable number of tandem repeat (VNTR) loci
under stringent hybridization conditions which generated simple
proles that could be easily interpreted [1417]. At that time, also
a new technique, the polymerase chain reaction, was adopted by
many molecular biology labs for analysis of DNA [18]. Based on an
in vitro process of DNA amplication, it became possible to reduce
drastically the amount of DNA necessary for analysis and the
analysis time. These two aspects were of importance for forensic
DNA analysis as the amount of a biological stain is sometimes
limited [19] and the reporting time of the results may be critical for
the forensic investigators. In addition, it opened the way to a more
widespread use of DNA analysis in forensic cases [2024].
New polymorphisms also emerged due to genetic mapping
efforts within the framework of the international human genome
initiative in the 1990s [25,26]. In contrast to the minisatellite loci
with a structure of tandem repeating motifs of between 9 and 100
nucleotides and a length distribution of the alleles of several
hundred to several thousands of nucleotides, the new polymorph-
isms had a repeat motif of between 2 and 6 nucleotides and
revealed a much more limited allele size distribution. These short
tandem repeat loci or STRs provided the opportunity to analyze
even degraded DNA which was not possible with the previous

0379-0738/$ see front matter 2010 Elsevier Ireland Ltd. All rights reserved.
doi:10.1016/j.forsciint.2010.02.029
 R. Decorte / Forensic Science International 201 (2010) 160164
methodologies [2729]. Several STRs could be combined into one
DNA analysis and with the emergence of automated uorescent
laser detection systems, it became possible to analyze STR loci with
a similar size in one assay if a different uorescent dye was used for
these loci during the DNA amplication process [30,31]. The
international forensic community embraced these methodologies
rapidly and introduced also common nomenclature based on the
number of repeat motifs [32,33]. This provided the opportunity to
store the DNA proles from biological stains and individuals into a
database as a digital prole which makes comparison of DNA
proles between samples and cases much more straightforward
[34,35]. The United States (Convicted Offender DNA Index System
or CODIS), Interpol and the European laboratories (European
Standard Set of loci or ESS) decided to use at least a common
number of STRs in order to allow comparisons across borders.
Biotech companies such as Applied Biosystems and Promega
developed commercial multiplex STR kits which provided the
forensic laboratories validated and reliable systems for forensic
evidence analysis as well for genetic identication of individuals.
2. Use of non-autosomal genetic systems
STR loci are not restricted to the autosomal chromosomes but
also present on the X and the Y chromosome. The latter
chromosome is especially useful to determine the paternal line
in families as the Y chromosome is transmitted exclusively from
father to son [36,37]. As such, it can be used for exclusion of
paternity while in the case of an inclusion, every relative in the
paternal line could be the father. Therefore, use of Y-STR loci in
determination of familial relationships is restricted to those cases
where the brother of the tested man may be the father of the male
child based on autosomal STR data, or when genetic identication
of a body is necessary without any sample from rst degree
relatives of the suspected individual. In those cases, Y-STR loci
might give additional information for solving the case or for
increasing the likelihood of paternity or identication. More than
200 Y-STR loci have so far been described in the literature but only
a limited number of 17 are in common use, mainly due to the
availability of commercial kits [38,39]. Twelve of them are known
as the extended haplotype which is sufcient for discriminating
most unrelated males. However, about 23% of the Western
European male population share the same haplotype although
they are not paternally related or at least it is unknown. Therefore,
further testing is necessary in order to in- or exclude a person. Y-
STR analysis is until now not able to discriminate between close
paternal relatives except if a mutation has occurred during one of
the meiosis that separates these males. Current research is
therefore focused on the identication of STR loci with a high
mutation rate that would allow discrimination between two male
relatives (e.g. brothers). The commonly used Y-STR loci have an
average mutation rate of one mutation in 357 generations [40].
Analysis of 49 Y-STR loci identied already two Y-STR loci (DYS570
and DYS576) with a mutation rate of one mutation in 6677
generations [41].
The past years some interest has gone also to STR loci on the X
chromosome mainly for paternity determinations [42,43]. While the
X chromosome is subject to recombination in female meiosis, males
will transmit their X chromosome mostly unchanged (except for the
pseudoautosomal regions) to their biological daughters. In males,
the X chromosome can therefore be considered as a haploid genome
similar to the Y chromosome. Two females share the same biological
father if they also share an X chromosome.
Mitochondrial DNA (mtDNA) can be considered as the female
counterpart of the paternal genetic line in families. By analyzing
sequence variation on the mtDNA one can determine if two
persons are maternally related which can be very useful in cases
161
where no rst degree relatives are available for the identication of
a body. The high copy number of mtDNA in the cell is an advantage
when no nuclear DNA can be found in bones, teeth or hair shafts
[44,45]. It is therefore not unusual that mtDNA analysis has been
used successfully in historical investigations such as the identi-
cation of the Romanov family and Louis XVII, or in the
identication of World War II soldiers or from mass graves
[46,47,44,4851]. Genetic variation on the mtDNA is mainly
present in two hotspot mutation regions (HV1 and HV2) in the
non-coding part or dloop region [52]. While two differences in the
sequence are sufcient to exclude any maternal relationship, one
nucleotide difference must be interpreted with care [45]. The high
mutation rate of mtDNA can lead to a state of heteroplasmy in the
cell which has been described for the rst time in a forensic case in
the identication of the Romanov family and later conrmed by
analysis of remains of the brother of Tsar Nicholas [46,53]. It has
also been observed that females carrying heteroplasmy transmit
varying proportions of mutant mtDNA to their offspring and that
sometimes a complete reversal is seen [54]. This distortion is the
result of a transmission bottleneck that occurs during proliferation
of the primordial germ cells in the female embryo [55]. A similar
bottleneck occurs in the formation of the hair follicles during
embryonic development. Analysis of mtDNA in single hairs of an
individual with heteroplasmy in the control region can result in
single differences between the hair samples. Therefore, one cannot
exclude a person from being the donor of a hair when a single
difference is observed [56,57,45].
3. Introduction of single nucleotide polymorphisms in forensic
DNA analysis
The current tools in forensic DNA typing are sufcient to
analyze biological samples in most forensic cases or for the
determination kinship among individuals. Fingerprints left by skin
contact on an object contain a sufcient amount of cells for
establishing a DNA prole of the donor [58,59]. Muscle, teeth, and
bones from recovered bodies of recent origin can be used to
identify the body genetically if the person cannot be identied by
other means. However, only 60% of the population do shed enough
skin cells to allow DNA proling while the DNA in weak tissues,
bones and teeth can be degraded due to the environmental
circumstances in which the body has been [59]. The application of
STR technology is problematic in these cases or even will not lead
to a DNA prole. This was for the rst time demonstrated when the
victims of the 9/11 attack in 2001 had to be identied [60].
Previously, use of DNA proling for victim identication in mass
casualties has been limited to less than 500 persons. The World
Trade Center attack resulted in 2792 individuals (representing 27
nationalities) reported missing. Only a few persons could be
identied without DNA analysis because their bodies were
relatively intact or sufcient body pieces were recovered. About
20,000 pieces of bone or weak tissue were recovered in the debris
of the building sometimes after several months. These samples
were heavily damaged by the explosion, the re and the collapse of
the buildings, and were sometimes commingled. The amount of
DNA obtained from these samples was sometimes insufcient to
obtain a STR prole. Partly this was also due to the degree of DNA
degradation which made it impossible to type standard STR loci.
On September 11th, 2005, the remains of 1594 victims had been
identied. These identications were based on the positive
analysis of only 40% of the recovered samples. For most persons,
either DNA samples from relatives were used or from personal
belongings such as hairbrushes, toothbrushes or shaving material.
In some cases, it was possible to obtain blood samples as some of
the persons were known blood donors. Additional genetic
information was obtained by the application of mini-STRs (20%
162 R. Decorte / Forensic Science International 201 (2010) 160164
of the identications) and the use of SNPs or single nucleotide
polymorphisms in 20 identications [60]. Mini-STRs are standard
STR loci with a reduced amplicon size (less than 200 bp) that
increases the success rate for analyzing degraded DNA samples
[61,62]. The higher sensitivity of mini-STR loci has lead to an
international decision to extend the current ESS loci used in
forensic DNA analysis with at least ve new mini-STR loci [63,64].
SNPs are the result of a change, deletion or insertion of a single
nucleotide at a certain position in the human genome. About
fteen million SNPs have so far been reported and the analysis of
a SNP can be done by amplication of a short segment around the
SNP position followed by detection of the nucleotide change by
minisequencing [65]. Between 40 and 50 SNPs are necessary to
have the same degree of discrimination of the classical STR
proles [66,67]. The DNA quality and/or quantity of the
remaining samples from the World Trade Center are presently
insufcient to reveal a DNA prole with STR loci, mitochondrial
DNA or even SNPs. Additional results for these samples can only
be expected by future technological developments that should
increase the sensitivity of the analysis or would rely on
methodology which require no DNA amplication step. The
development of massive parallel sequencing technology could
provide a solution. While most technologies (e.g. 454, SOLID or
Illumina) on the market still rely on DNA amplication, other
companies (e.g. Helicos) have developed procedures without any
DNA amplication step [68,69]. Recently, it has been demon-
strated that this new technology is capable to sequence the
complete mtDNA genome in ancient DNA samples from medieval
skeletons (Peter de Knijff, personal communication), therefore,
providing the opportunity to recover genetic information from
highly degraded DNA samples.
The 9/11 attack on the World Trade Center in New York and the
2004 Tsunami in Southeast Asia have revealed that most forensic
DNA laboratories were not prepared for rapid and effective victim
identication by DNA analysis when a large number of victims are
involved. The experiences from these mass disasters have been
used by the International Society of Forensic Genetics to formulate
recommendations concerning practical procedures and guidance
in the collection and storing of ante-mortem and post-mortem
samples suitable for DNA-based identication of victims [70].
These guidelines will help in standardizing the procedures of DNA
identication and will improve the efciency of the current DVI
tasks.
4. Future developments determining the geographic origin of
individuals
The worldwide geographic distribution of Y chromosome and
mitochondrial variation has been inuenced by human migration
patterns, genetic drift and isolation. Most societies are patrilocally
structured in which paternal relatives tend to live in the
geographic and cultural territory of their paternal ancestors. As
a result, Y chromosomal variation is regionally structured and Y-
STR analysis can be used to infer the origin of a male individual
[71]. This information can be useful in those cases where it is
unclear what the ethnic origin is of a body found. A large database
of Y-STR haplotypes (http://www.yhrd.org) is available on the
Internet and can be used to infer the possible geographic origin of
an individual or his paternal ancestors [72]. This analysis should be
complemented with mtDNA and autosomal genetic information
because admixture in previous generations will lead to hetero-
geneity within their genetic inheritance [73]. MtDNA haplotypes
can distinguish between continental specic haplogroups. The
combination of both the Y chromosome and mtDNA could
therefore provide information concerning the continental origin
of an individual.
SNPs on the autosomal chromosomes can provide additional
genetic information for inferring the geographic origin of an
individual. Some SNPs are specic to certain continental popula-
tion groups hence the term ancestry informative markers (AIM).
Many AIM SNPs have so far been described in the literature but the
highest resolution is obtained with microarrays containing
500,000 SNPs. However, the sensitivity of this technique is
insufcient to analyze forensic samples. Current research is
focused on the identication of those SNPs that provide sufcient
resolution to discriminate between individuals from different
continents [7477].
5. Predicting physical appearance of an individual
The objective of forensic DNA analysis is to determine if a
person is the donor of a stain, or if a person is biologically related to
another person. This can only be accomplished if a reference
sample of the individual(s) is available for comparison with the
DNA prole. For stain samples, one can store and compare the
prole with other proles in a DNA database, and if a match with a
convicted offender is found, then a positive identication is
obtained [34,78]. However, if the police does not have any suspect
or the DNA database search did not reveal any match, then it would
be useful for the investigators to obtain some information,
especially physical characteristics, concerning the donor of the
stain. Similarly for an unidentied skeleton, any physical trait
information of this individual apart from a geographical origin
would help in the identication of the body. The past years, several
publications concerning hair color, iris color and skin pigmentation
have appeared. These reports rely on the identication of SNPs
within a gene or in non-coding regions that show association with
a particular trait. This research is very complicated as demon-
strated for skin pigmentation where more than 200 genes have
been identied so far [79]. This is further complicated by
interaction between genes [80]. Success has been obtained in
identifying mutations in the MCR1 gene that have an association
with hair color particularly red hair [8183]. Other studies rely on
genome-wide association studies to identify those genes or gene
regions associated with a physical trait. Iris color is one trait where
this approach has been successful [84,85]. Iris color is only relevant
to European populations where except for brown eye color also
blue and green is prevalent. Although, considerable progress has
been made the past decade in nding those SNPs that would
predict a physical trait, still these associations are not 100% but
only give an indication of what kind of physical trait an individual
has. Further research is therefore necessary in order to identify
those genetic factors that determine our physical appearance.
6. Conclusion
The implementation of DNA technology has revolutionized
forensic identication procedures the past 25 years. Great progress
has been made in exploring genetic variation on the autosomal
chromosomes, the sex chromosomes and mtDNA which provides
sufcient genetic information for the identication with high
probability the donor of biological samples or an individual.
Further genome research will provide new tools in forensic
identication especially those genetic factors that will help in
reconstructing the physical appearance of an individual or infer the
geographic origin of a person.
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