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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 the analysis had performed. In addition, the amount of DNA
necessary to obtain results limited the number of biological
In 1985, Alec Jeffreys published the rst paper describing the samples for forensic DNA analysis. It was clear that the sensitivity
use of DNA analysis for the genetic identication of biological of the method had to be improved in order to apply DNA analysis to
samples or human individuals [1,2]. At that time, it was a major more cases and samples, and that the methodology should change
breakthrough in forensic identication as most procedures were to less disputable methods. By the end of the 1980s, DNA proling
based on the analysis of protein or blood group polymorphisms. replaced DNA ngerprinting which was based on the analysis of
These old systems suffered from a low degree of discrimination minisatellite or variable number of tandem repeat (VNTR) loci
(except for HLA) and their use was limited to samples that did not under stringent hybridization conditions which generated simple
show any degradation. DNA was much more powerful as it proles that could be easily interpreted [1417]. At that time, also
overcame these restrictions and made it possible to identify each a new technique, the polymerase chain reaction, was adopted by
individual with certainty, hence the term DNA ngerprint analysis many molecular biology labs for analysis of DNA [18]. Based on an
[36]. Since 1985, the eld of forensic DNA analysis rapidly in vitro process of DNA amplication, it became possible to reduce
changed partly driven by criticism on the technology and how it drastically the amount of DNA necessary for analysis and the
was implemented by forensic laboratories [713] and partly by analysis time. These two aspects were of importance for forensic
major events that triggered the development of more sensitive DNA analysis as the amount of a biological stain is sometimes
methodologies. limited [19] and the reporting time of the results may be critical for
The initial method developed by Jeffreys was based on the the forensic investigators. In addition, it opened the way to a more
analysis of minisatellite loci under non-stringent hybridization widespread use of DNA analysis in forensic cases [2024].
conditions which generated a DNA pattern unique to each New polymorphisms also emerged due to genetic mapping
individual except for identical twins [2]. However, DNA nger- efforts within the framework of the international human genome
printing was difcult to perform in the lab and sometimes initiative in the 1990s [25,26]. In contrast to the minisatellite loci
differences in the results could be observed depending which lab 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
* Correspondence address: University Hospitals Leuven, Department of Forensic
Medicine, Laboratory of Forensic Genetics and Molecular Archaeology, Kapucij-
revealed a much more limited allele size distribution. These short
nenvoer 33, B-3000 Leuven, Belgium. Tel.: +32 0 16 345860; fax: +32 0 16 345997. tandem repeat loci or STRs provided the opportunity to analyze
E-mail address: ronny.decorte@uzleuven.be. 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 161

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