Sei sulla pagina 1di 6

Forensic Science International: Genetics 5 (2011) 291–296

Contents lists available at ScienceDirect

Forensic Science International: Genetics


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

Disaster victim investigation recommendations from two simulated mass disaster


scenarios utilized for user acceptance testing CODIS 6.0
Laurie Bradford *, Jennifer Heal, Jeff Anderson, Nichole Faragher, Kristin Duval, Sylvain Lalonde
National DNA Data Bank, Royal Canadian Mounted Police, 1200 Vanier Parkway, Room 46, Laboratory Building, Ottawa, Ontario, K1A 0R2, Canada

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

Article history: Members of the National DNA Data Bank (NDDB) of Canada designed and searched two simulated mass
Received 4 January 2010 disaster (MD) scenarios for User Acceptance Testing (UAT) of the Combined DNA Index System (CODIS)
Received in revised form 6 May 2010 6.0, developed by the Federal Bureau of Investigation (FBI) and the US Department of Justice. A simulated
Accepted 15 May 2010
airplane MD and inland Tsunami MD were designed representing a closed and open environment
respectively. An in-house software program was written to randomly generate DNA profiles from a mock
Keywords: Caucasian population database. As part of the UAT, these two MDs were searched separately using CODIS
CODIS 6.0
6.0. The new options available for identity and pedigree searching in addition to the inclusion of
Mass disaster
mitochondrial DNA (mtDNA) and Y-STR (short tandem repeat) information in CODIS 6.0, led to rapid
Disaster Victim Identification
DNA identification of all victims. A Joint Pedigree Likelihood Ratio (JPLR) was calculated from the pedigree
Joint Pedigree Likelihood Ratio searches and ranks were stored in Rank Manager providing confidence to the user in assigning an
Pedigree tree searching Unidentified Human Remain (UHR) to a pedigree tree. Analyses of the results indicated that primary
relatives were more useful in Disaster Victim Identification (DVI) compared to secondary or tertiary
relatives and that inclusion of mtDNA and/or Y-STR technologies helped to link family units together as
shown by the software searches. It is recommended that UHRs have as many informative loci possible to
assist with their identification. CODIS 6.0 is a valuable technological tool for rapidly and confidently
identifying victims of mass disasters.
Crown Copyright ß 2010 Published by Elsevier Ireland Ltd. All rights reserved.

1. Introduction World Trade Center attack in New York City on September 11th
2001, were associated with a larger number of victims who were
Mass fatality incidents (MFIs), also known as mass disasters, are not known [2,5–9].
caused by accidental catastrophes such as airplane crashes, natural DNA typing is a robust, consistent and reliable technique ideally
occurrences such as Tsunamis and intentional acts such as terrorist suited for identifying victims of mass disasters [3]. Even highly
attacks. These incidents generally lead to a high death toll and degraded body remains can be typed using STRs (100–400 base pairs
mass destruction of property [1,2]. On September 2nd 1998, Swiss (bp)) [7]. For the above-mentioned mass disasters unidentified
Air Flight 111 crashed in the ocean off the coast of Peggy’s Cove, human remains and reference samples from biological relatives
Nova Scotia, Canada [3,4]. Two hundred and twenty nine were typed using AmpF‘STR1 Profiler PlusTM and AmpF‘STR1
passengers and crew members perished leaving investigators COfilerTM kits (Applied Biosystems, Foster City, CA) [2–4,6,8].
with 1277 human remains to identify [3,4]. This is an example of a In recent years, Y-STR and mtDNA techniques have assisted in
closed mass disaster where the victims were potentially known by victim identifications. Y-STRs and mtDNA are haplotypes that are
the airplane manifest. Open environment mass disasters like the not subject to recombination events [6]. Barring mutations, they
Asian Tsunami that occurred on December 26th 2004 and the are consistent across generations. Y-STR inheritance is via the
paternal side and only occurs in males. MtDNA is inherited
maternally and is passed on to all offspring [7,10,11]. The
Abbreviations: DVI, Disaster Victim Identification; MD, mass disaster; MFI, mass
disadvantage to using only Y-STRs and mtDNA is that the genetic
fatality incident; CODIS, combined DNA index system; DNA, deoxyribonucleic acid;
NDDB, National DNA Data Bank of Canada; RCMP, Royal Canadian Mounted Police; information is not discriminating at an individual level. Entire
FBI, Federal Bureau of Investigation; UAT, user acceptance testing; STR, short families will have the same Y-STR profile for the paternal lines and
tandem repeat; Y-STR, Y chromosome short tandem repeat; mtDNA, mitochondrial mtDNA sequences for all maternal lines, with the exception of
DNA sequence; UHR, unidentified human remain; MP, missing person; bp, base mutations and heteroplasmy [10,11].
pair; LR, likelihood ratio; CLR, combined likelihood ratio; JPLR, joint Pedigree
Likelihood Ratio.
Mass fatality incidences pose a unique challenge for scientists
* Corresponding author. Tel.: +1 613 993 8906; fax: +1 613 993 9944. attempting to identify the victim’s remains for their return to
E-mail address: laurie.bradford@rcmp-grc.gc.ca (L. Bradford). family members. The proper identification of victims is dependent

1872-4973/$ – see front matter . Crown Copyright ß 2010 Published by Elsevier Ireland Ltd. All rights reserved.
doi:10.1016/j.fsigen.2010.05.005

Downloaded for Ryo Edogawa (ryoedogawa@gmail.com) at Universitas Padjadjaran from ClinicalKey.com by Elsevier on December 11, 2017.
For personal use only. No other uses without permission. Copyright ©2017. Elsevier Inc. All rights reserved.
292 L. Bradford et al. / Forensic Science International: Genetics 5 (2011) 291–296

on: the number of UHRs; cause of death and extent of body Table 1
A breakdown of the pedigree tree statistics for the victims of the airplane and
fragmentation; DNA degradation; recovery of the remains;
Tsunami mass disasters.
integrity of the samples and the type of familial DNA reference
samples available to aid the investigation [1,2,11]. Direct reference Mass disaster Relative type Percentage of total
samples (DRS), also referred to as exemplar samples or personal Airplane Primary only 84.1
effects, are samples directly taken from the victim or their personal Two primary 44.7
belongings [2–7]. In the past, direct reference samples could not Primary and secondary 11.2
Secondary only 4.7
always be confidently assigned to a victim [4]. Other consider-
ations in identification include the occurrence of genetic core Tsunami Primary only 81.7
repeat slip mutations between parents and offspring where the Two primary 47.2
Primary and secondary 11.3
slippage is by one or two repeat units (e.g. 4–8 bp), the presence of Secondary only 7
rare alleles and the more common variants where the slippage may be
off by only 1 or 2 bp [3,4,7]. Additionally, high impact mass disasters
like airplane crashes can lead to the occurrence of comingled remains, trees were then developed for each person on the plane. In total, 79
resulting in victim profiles that appear as mixtures requiring pedigree trees were drawn. They were designed to include primary
interpretation [2–4,6,7,11]. and/or secondary relatives with some containing a lot, or very little
CODIS 6.0 is a software program designed with new features for family information in order to test the software capabilities
identifying victims of mass fatality incidences and on-going missing (Table 1). For the purpose of the user acceptance testing, primary
persons programs. One feature of CODIS 6.0 is the redesigned, user- relatives included biological parents, children and full-siblings.
friendly interface. Navigation through the many software modules is Secondary relatives included grandparents, grandchildren, half-
improved and more than one window is accessible at one time. siblings, aunts, uncles, nieces and nephews. In some cases the
Identity searches are still available and a new search feature referred entire family was on the airplane and all were victims. There were
to as Pedigree searching has been added. Pedigree trees can be pedigree trees where the biological father was not known and
generated in the new module Pedigree Tree Designer where where a child was adopted so no biological relative information
relatives are associated to the pedigree tree and can be saved in was made available.
Pedigree Tree Manager. The entire pedigree tree is searched against The airplane was broken apart in a simulated crash and a grid
all of the UHRs to find a suitable rank with the associated relative was drawn over the crash site and labelled in meters-squared
DNA information. The ranks are displayed in the Rank Manager based on an Interpol gridding system [13,14]. The UHR naming
module of CODIS 6.0 where all the search results can be reviewed. convention was based on the World Trade Center mass fatality
Additionally Y-STRs and mtDNA can be added to assist in victim incident and Interpol guidelines and required a maximum of 25
identification. Metadata (unique non-DNA identifying pieces of characters for CODIS 6.0. It consisted of a unique mass disaster
information specific to a victim) can also be added for a victim in the number, a unique investigator’s number, the UHR number
new software program and used to assist in their identification. assigned by that investigator and the grid location of the body
The Pedigree searching feature uses the kinship calculations or part based on the X and Y coordinates [9,14].
and produces a Joint Pedigree Likelihood Ratio (JPLR). The JPLR is The relatives were named based on the mass disaster number
the ratio of the probability of the missing individuals DNA profile followed by the relationship to the victim(s) and the manifest seat
being related to the pedigree tree (containing at least one relative’s number [8]. The manifest was numbered consecutively in order of
DNA information) compared to their DNA profile not being related the seat numbers.
to the pedigree tree. This gives the CODIS 6.0 user greater To aid in developing the number of STR profiles required for a
confidence in assigning a UHR to a specific pedigree tree and leads project of this scale, the NDDB information technology support
to a reduction in fortuitous matches. The statistical calculations, member created an Access database pedigree-generating software
inclusion of new identification technologies and data management program. The program is able to calculate up to 15 DNA profiles
capabilities were shown to be assets in victim identification. within multiple generations of a pedigree. The AmpF‘STR1 Profiler
PlusTM and AmpF‘STR1 COfilerTM (Applied Biosystems, Foster City,
2. Materials and methods CA) STR profiles came from a database of over 100,000 randomly
generated profiles that were formed using a weighted random
2.1. Simulated airplane and Tsunami MD design number generator created by Dr. B. Leclair (Myriad Genetics, Salt
Lake City, UT) (Dr. B. Leclair, personal communication). The allele
Two simulated mass disasters, an airplane crash representing a frequencies were representative of a standard Caucasian popula-
closed environment mass disaster and a Tsunami representing an tion and these frequencies came from the validation studies
open environment mass disaster, were designed by members of conducted at the RCMP for the AmpF‘STR1 Profiler PlusTM and
the National DNA Data Bank (NDDB) of the Royal Canadian AmpF‘STR1 COfilerTM kits (Applied Biosystems, Foster City, CA).
Mounted Police (RCMP) for user acceptance testing (UAT) of a An additional feature of the program is that all generated profiles
CODIS 6.0 pre-release package. Actual mass disasters were used as are editable and customizable to suit project requirements, for
a guide in designing data that would challenge both the software example creating partial profiles or adding mutations.
program and the users during the testing phase. These mass STR DNA profiles were generated for each victim and available
disaster scenarios were created to test the features of CODIS 6.0, relative(s) in the pedigree tree. In total there were 245 UHR profiles
and specifically the pedigree searching feature and the outcome of generated from whole bodies and body parts and 215 profiles from
the JPLR calculations. The data files are available to law relatives. Some of the UHR DNA profiles were made to be partial
enforcement agencies only. profiles consistent with true findings from airplane mass disasters
The simulated airplane mass disaster was designed first. The (Table 2). The partial profiles were created only from complete
airplane model used for the mock mass disaster was a Boeing 737 CODIS 13 loci profiles and were very reasonable having at least 9
capable of carrying 189 passengers plus a pilot, co-pilot and 6 crew loci present with some allele dropout present in some of the loci,
members [12]. A person was assigned to each seat on the manifest and exceeding the NDDB’s current requirement of having at least 7
in addition to a full crew complement. Names were created for loci for CODIS searching. For the purpose of the UAT, we did not
each person and familial relations were delineated and pedigree differentiate between partial and incomplete profiles. The mock

Downloaded for Ryo Edogawa (ryoedogawa@gmail.com) at Universitas Padjadjaran from ClinicalKey.com by Elsevier on December 11, 2017.
For personal use only. No other uses without permission. Copyright ©2017. Elsevier Inc. All rights reserved.
L. Bradford et al. / Forensic Science International: Genetics 5 (2011) 291–296 293

Table 2 mass disaster and 62 victims and associated relatives, with mtDNA
DNA profile breakdowns for the UHRs in the airplane and Tsunami mass disasters
sequences supplied by the University of North Texas.
after building representative specimens.
In this case, 55 exemplar profiles were created to help identify
Mass disaster Profile type Percentage of total profiles the victims. These were produced in a similar fashion to the
Airplane Complete 73.30% airplane mass disaster. Metadata was added for 26 victims for
Partial 17.30% further assistance in their identification.
Profiler PlusTM 7.30% Finally, Coroner’s Reports and death certificates were designed
Mixtures/comingled 2.1
and generated for each victim for both disasters. The reports
Tsunami Complete 98.9 included: all body parts associated with a victim and the associated
Partial 1.1 STR DNA profile(s); Y-STR profile data and mtDNA data if available;
relative STR DNA profiles including their Y-STR and mtDNA data if
available and the exemplar(s) STR DNA profile(s) associated with
mass disaster included variants, rare alleles, mutations, comingled that victim if provided.
remains and direct reference samples presumed to be for a victim In an attempt to best simulate a true mass disaster, the
when they were not [4]. Additionally, the disaster data included a scientists who performed the data analysis were different
trisomy and a chimera to test the software capabilities. scientists than those who developed the mass disaster scenarios
Y-STR profiles were created based on the loci from the and created the data. The data developers acted as coroners for the
AmpF‘STR1 YFilerTM kit (Applied Biosystems, Foster City, CA). mock mass disasters. Their role was to confirm the identity of the
Two Y-STR databases were used to create a total of 36 simulated Y- victims and issue a death certificate as per a genuine mass disaster
STR profiles for the victims and relatives of the mass disaster [11].
[10,15,16]. The Health Science Center from the University of North
Texas supplied mtDNA sequences for 58 victims and their relatives 2.2. Statistical analysis
and they also reviewed the Y-STR profiles confirming that they
were representative profiles (Dr. J. Planz, personal communica- After completion of the UAT, the data from both simulated mass
tion). disaster scenarios were combined for statistical analysis as the
Seventy-nine direct reference sample profiles were created for searching protocols for each were the same. The statistical analysis
the victims. The exemplar sources included toothbrushes, hair- was performed using a Kruskal–Wallis test or two-sample
brushes, personal hygiene items (i.e. feminine hygiene products, Kolmogorov–Smirnov test. Chi-square tests were performed to
diapers, etc.), underwear and an ‘‘other’’ category (i.e. tissue biopsy test the significance between variable groups. The statistical
samples) consistent with Interpol guidelines and the source types calculations based on the analyses performed were expected to
used in the Swiss Air flight 111 mass disaster investigation reflect the importance of using primary relatives in victim
[4,13,14]. These direct reference samples were named based on the identification. Having more primary relatives available was
order families and close acquaintances of the victims reported to expected to show a significant impact in victim identification.
the investigators. Secondary relatives, in conjunction with primary relatives, were
Metadata was also utilized in victim identification. The expected to contribute towards victim identification. Additionally
metadata that included: tattoos; piercings; X-rays of broken the Combined Likelihood Ratios (CLR) which combine the JPLR
bones; dental X-rays and any unique identifying piece of with mtDNA and/or Y-STR likelihood ratios were predicted to
information specific to a MP, was used to narrow down the improve confidence when included. Comparisons of complete
identification to one individual. Metadata was generated for 24 profiles, partial profiles and Profiler PlusTM only profiles demon-
victims and linked to their direct reference sample profiles. strated the importance of having as many loci typed for each victim
The Tsunami mass disaster data was generated in a similar when possible.
manner to the Airplane mass disaster however it was representa-
tive of an open environment. A total of 82 pedigree trees were 2.3. CODIS data imports and searching protocols
created for the Tsunami mass disaster consisting of primary,
secondary and tertiary relatives. Not all of the persons reported For each mass disaster scenario, CODIS import files were
missing were victims and not all victims of this disaster were created for the UHR, relative and exemplar profiles. For the purpose
reported missing, indicative of what might occur in an actual open of our user acceptance testing, separate import files were created
environment mass disaster. for the mtDNA profiles and the Y-STR profiles, however, the STR
A grid was drawn over satellite photos of the disaster site, Tofte, and Y-STR can be contained in the same file. All mass disaster
Minnesota, USA, based on a scale of 30 m squared [17]. The naming profiles provided were imported into CODIS 6.0, using a server/
convention for the relatives and direct reference samples differed workstation computer. The server was a Dell PowerEdge 1900
due to the grid format and absence of a known victim list. Similar to (4 GB Ram) with a Dual Processor Intel Xeon E5310. It contained a
the airplane mass disaster, the UHR naming convention composed 160 GB hard drive, a gigabit Ethernet and ran on a Microsoft1
of four parts included a mass disaster number, investigator Windows Server 2003 and SQL Server 2005. For further informa-
number, whole body or body part number found by the tion detailing configurations and searching procedures please see
investigator and the grid location based on the x and y coordinates. the supplemental information.
Consequently, relatives were named based on mass disaster
number, the order the relatives reported to the mass disaster 3. Results and discussion
investigative team and by their relationship to the victim(s).
Once more the STR DNA profiles were generated for each victim 3.1. CODIS 6.0 statistical calculations
and available relative(s) in the pedigree trees. In total there were
228 UHR profiles generated and 132 relative profiles. Very few of CODIS 6.0 software provided a combined likelihood ratio (CLR),
the UHR DNA profiles were partial in the Tsunami mass disaster. JPLR and mtDNA and/or Y-STR DNA likelihood ratios (LRs)
The principles for variants, rare alleles and mutations were applied separately resulting from the Pedigree searching feature. The
here as in the airplane mass disaster. Included were 38 victims combined likelihood ratio includes the JPLR and likelihood ratios
with Y-STR profiles created in the same fashion as the airplane from the inclusion of mtDNA and/or Y-STR profiles for a pedigree

Downloaded for Ryo Edogawa (ryoedogawa@gmail.com) at Universitas Padjadjaran from ClinicalKey.com by Elsevier on December 11, 2017.
For personal use only. No other uses without permission. Copyright ©2017. Elsevier Inc. All rights reserved.
294 L. Bradford et al. / Forensic Science International: Genetics 5 (2011) 291–296

Table 3 There were several factors that affected the presence of true
A breakdown of the average JPLR, mtDNA LR, Y-STR LR and CLR for both mass
ranks during the Pedigree searches. Very degraded profiles,
disaster scenarios.
comingled samples, or UHRs having mutations beyond the
Average JPLR Average Average Average CLR allowance of the mutation model were not returned as ranks
mtDNA LR Y-STR LR
upon performing a Pedigree search. The mutation model accounts
Airplane 7.55E+11 884 3450 3.35E+16 for two core repeat unit mutations and minor slip mutations in a
N = 163 N = 56 N = 32 N = 172 pedigree tree. In these above cases, or where no ranks were
Tsunami 9.39E+17 902 2520 1.16E+21
returned at all (for example, where a non-biological father was
N = 176 N = 54 N = 25 N = 177
associated to the pedigree tree), identity search(es) were
subsequently performed. It is therefore recommended that all
tree. The JPLR alone does not include any additional information Pedigree searches be complemented with Identity searches, to
from these DNA technologies. Average JPLR, mtDNA LR, Y-STR LR verify and confirm the ranks and to ensure that the true rank was
and CLR values were calculated for each mass disaster scenario to not missed. It is also important to note that some ranks will not be
demonstrate the JPLR values obtained in the simulated mass returned if their JPLR values are below the set JPLR threshold of the
disaster searches (Table 3). Pedigree search configurations.
Initially, an UHR to UHR Identity search was done to be able to Pedigree searches that return ranks must be viewed differently
add together samples from the same source (representative from conventional search results using pair-wise likelihood ratios.
sample). Then missing person vs. UHR Identity AutoSearches For instance, if two parents are associated to a pedigree tree and
were performed to match the victim’s direct reference sample(s) three of their children are victims of a mass fatality incident, then
with their UHR STR DNA profiles from the mass disaster. The the returned ranks should include all three children, even though
Identity AutoSearch compares the profiles at each locus and only one node is being searched. The rank returned for the node
returns matches based on how many alleles at each locus matched. that is being searched is referred to as the expected rank by the
This is useful for identifying some victims prior to pedigree authors. Subsequently, the other two children are not fortuitous
searching. ranks as they are part of the pedigree tree being searched and are
The pedigree trees were searched individually and without the equivalent to the searched node. They are also true ranks and
use of the Pedigree AutoSearcher feature. This was done to solve the referred to as equivalent ranks by the authors. Associated ranks refer
mass disasters more efficiently by avoiding the high number of ranks to ranks returned for a related, non-equivalent node that belong to
that would have occurred from an AutoSearch on this large of a scale. a different generation of the pedigree tree with the exception of
The AutoSearch feature would have taken hours to complete in cousins who are from the same generation. Take for example a
terms of checking each match for the mass disasters and these were pedigree tree with two children typed, with their parents and
mass disasters with fewer body remains than realistic mass disasters grandparents unknown. If a Pedigree Search is performed
therefore the pedigree trees were searched individually. This can be searching the father node then the father will be returned as
partially attributed to the fact that all of the UHRs were entered into the expected rank and the mother will be returned as an equivalent
CODIS 6.0 simultaneously, compared to an approach where they are rank (Pedigree searches are not Amelogenin gender dependent
entered in batches. In a continuous missing persons program, the however gender can be set in metadata and used as a filter) and the
Pedigree AutoSearcher would be used on a routine basis however the grandparents will be returned as associated ranks.
challenges a mass disaster search imposes has specific differences A fortuitous rank is any rank that is returned and does not fall
compared to a missing person search mainly that the victims are under the category of expected, equivalent or associated rank for
frequently known and there will expectedly be a high number of that pedigree tree. They occur whereby a victim appears to be
matches resulting from searching. related to the kin but in fact they are not [1,2,6]. It is an STR DNA
After a pedigree search, the JPLR calculations are returned in profile incorrectly associated with the pedigree tree being
Pedigree Searcher and viewed in Rank Manager in the descending searched. It has been suggested that inclusion of more relative’s
order. A true top rank can be defined as the expected result, i.e. the information may prevent or reduce the occurrence of true
victim, being returned and having the highest ranking JPLR for the fortuitous ranks [4]. In many cases, these can also be attributed
node being searched. In the case of the airplane mass disaster to common alleles in the profiles. These matches can be avoided by
scenario, 89.3% of the time the true rank was returned in the top 5 using more DNA information such as mtDNA or Y-STRs and having
ranked candidates and 90.2% of the time the true rank was more primary relatives available for kinship analysis. The existence
returned in the top 10 ranked candidates. The average number of of mutations must be considered in data searching and the
ranks returned for a searched node was 3.8. For the Tsunami mass leniency allowed in search parameters can lead to more fortuitous
disaster scenario 95.9% of the time the true rank was within the top matches [6]. The occurrence of fortuitous matches is greatly
5 ranked candidates and 96.7% of the time the true rank was in the reduced in CODIS 6.0.
top 10 ranked candidates. The average number of ranks returned
for a searched node in the Tsunami was 5.8. 3.2. Contribution of primary relatives
For both simulated mass disaster searches, 99% of the true ranks
had JPLRs above 4.89E+1 and 95% of the true ranks were above Both primary and secondary relatives contribute to victim
7.15E+02. Setting a minimum JPLR threshold from these numbers identification. Primary relatives consisting of parents, offspring
would be possible, however the consequences of threshold settings and full-siblings are ideal contributors for identifying victims.
must be carefully weighed for each individual mass disaster. Having at least two primary relatives available in a pedigree tree is
In total 72 ranks were returned without a JPLR value and 6 of the current recommendation for missing persons and mass
these were the true ranks. This occurred due to the existence of Disaster Victim Identification (Dr. D. Hares, personal communica-
extremely partial profiles not fitting the mutation model set within tion) [11,18]. The highest contributing primary relatives are the
the software. Every UHR was successfully identified who could be parents and children of a missing individual [11]. Siblings are not
identified. These identifications were made with direct reference ideal primary contributors due to varying degrees of relatedness
samples, metadata, Pedigree Searches or Identity Searches. There between each other. This was supported by the combined
were 6 UHRs remaining unidentified in the Tsunami, which were statistical analysis of the mass disaster data sets. The number of
incorporated into the mass disaster design. primary contributing relatives was tested over both mass disaster

Downloaded for Ryo Edogawa (ryoedogawa@gmail.com) at Universitas Padjadjaran from ClinicalKey.com by Elsevier on December 11, 2017.
For personal use only. No other uses without permission. Copyright ©2017. Elsevier Inc. All rights reserved.
L. Bradford et al. / Forensic Science International: Genetics 5 (2011) 291–296 295

Table 4 confounding effect when using secondary and/or tertiary relatives


Results from a Kruskal–Wallis statistical analysis demonstrating the mean ranks
with primary relatives. The addition of secondary and/or tertiary
and mean JPLR values compared for victims having 1, 2 or 3 plus primary relatives
available in their pedigree tree. relatives to a pedigree tree seems to negatively contribute to
confidence in assigning a UHR to a missing person node. This may
No. primary relatives Mean JPLR Mean rank
explain the trend seen when the JPLR values are lower for pedigree
1 1.80E+11 78.69 trees with all relative types compared to pedigree trees with only
N = 100 primary relatives available (Table 5).
2 1.06E+18 189.75
The results strongly suggest that the primary relatives provide
N = 156
3+ 3.74E+14 200.84 the most genetic information for victim identification compared to
N = 55 secondary and tertiary relatives. Alleles from primary relatives will
Total N = 311
be in a victim’s STR DNA profile while additional non-shared alleles
present in secondary and tertiary relatives are not often present in
the victim’s profile. They may only serve to expand the allelic pool
scenarios. The more information made available in a pedigree tree of possibilities, thereby potentially decreasing the JPLRs or
from first degree relatives, the fewer number of ranks would be confidence in the relatedness. The type of primary relative is
returned. Only the UHRs consistent with that pedigree tree were probably a factor as parents would potentially provide more useful
returned as ranks from the search, further reducing the number of genetic information even compared to full-siblings, who may or
fortuitous ranks. It was noted that the JPLR values increased may not share a high genetic relatedness.
significantly as more primary relatives were made available in a
pedigree tree (Table 4). However there was not a significant 3.4. Contribution of mtDNA and Y-STR
difference seen when three or more primary relatives were made
available compared to two (Table 4). An exception is when the As expected, the secondary and/or tertiary relatives were not
parents are unavailable and siblings are able to provide DNA strong contributors for victim identification unless additional
information. In this circumstance it is desirable to have more technologies, such as mtDNA and Y-STRs, were provided. This was
siblings available showing contribution of common alleles from noted by the higher combined likelihood ratio values assigned to
the parents. UHRs with the addition of one or both of these technologies. There
was a significant difference seen when comparing victims with
3.3. Relationship of relatives to victims additional DNA technologies available and victims with no
additional information available (Table 6). Therefore the inclusion
Secondary relatives, such as grandparents, grandchildren, half- of mtDNA and/or Y-STR technologies improved the CLR for victims
siblings, aunts, uncles, nieces and nephews can provide DNA and in turn contributed positively to victim identification. The
information in a pedigree tree and having both maternal and addition of more DNA technologies increases discrimination and
paternal secondary relatives is beneficial [2,4,5,8,9,13,19]. This was certainty in assigning a victim to a pedigree tree.
investigated statistically when the simulated data was analyzed to
determine if the primary relatives provided more useful informa- 3.5. Importance of profile type
tion when identifying victims compared to secondary relatives.
Overall there was a significant difference seen between victims Additionally, it is recommended to have complete CODIS 13
with primary relatives only, victims with secondary and tertiary core loci profiles for UHRs. The partial profiles contained a
relatives and victims with all relative types available (Table 5). minimum of 8 complete loci and 2 partial loci where an allele had
There was also a significant difference seen between victims with dropped out. There was no significant difference between the
primary relatives only and victims with all relative types available complete 13 CODIS core loci profiles, partial profiles based from
(Table 5). the complete profiles and AmpF‘STR1 Profiler PlusTM profiles,
The number of ranks generated during a Pedigree Search was however it is always beneficial to have more loci available in victim
mostly dependent on the degree of relationship between the identification (Table 7).
relatives in the pedigree tree and the UHR. For example, a pedigree Alternative methods may be used to further identify UHRs from
tree with only secondary and/or tertiary relative(s) would generate the same family. Direct reference samples can be used to clarify
more ranks, mostly fortuitous ranks, than a pedigree tree Pedigree Search results. For example when two siblings of the
incorporating primary relatives. Siblings also seemed to generate same gender are both returned as high ranks to a pedigree tree,
more ranks compared to parents who generated fewer ranks they can be distinguished by their exemplar DNA profiles [2]. It is
overall most likely attributed to varying degrees of relatedness also recommended that more than one exemplar sample be
between each other. Our results indicate that primary relatives submitted for each victim to counter the possibility of shared
alone are better than a combination of primary, secondary and in personal effects and partial profiles [4]. Metadata entered in CODIS
very few cases tertiary relatives. Again this may be caused by a 6.0 can be referenced for further individual identification.

Table 5
Results from a Kruskal–Wallis statistical analysis demonstrating the mean ranks Table 6
and mean JPLR values compared to victims having only primary relatives, secondary Results from a Kolmogorov–Smirnov statistical analysis showing the mean LRs for
and tertiary relatives and all relative types available in their pedigree tree. victims who had a JPLR value with no additional DNA information compared to
victims who had a CLR with mtDNA and/or Y-STR DNA information available for
Group Mean JPLR Mean rank their pedigree searches.
1 Primary relatives only 6.01E+17 182.04
Group Mean LR value
N = 275
2 Secondary and tertiary relatives 1.57E+5 25.4 JPLR with no additional information 2.59E+12
N = 20 N = 183
3 Primary, secondary and tertiary relatives 5.96E+10 121.56 CLR (JPLR plus mtDNA and/or Y-STR information) 1.21E+19
N = 36 N = 164

Total N = 331 Total N = 347

Downloaded for Ryo Edogawa (ryoedogawa@gmail.com) at Universitas Padjadjaran from ClinicalKey.com by Elsevier on December 11, 2017.
For personal use only. No other uses without permission. Copyright ©2017. Elsevier Inc. All rights reserved.
296 L. Bradford et al. / Forensic Science International: Genetics 5 (2011) 291–296

Table 7 processes; Dr. John Butler (NIST) for Y-STR databases and
Results from a Kruskal–Wallis statistical analysis comparing mean ranks from
references; Insp. Kevin Miller (RCMP) for providing invaluable
victims with complete 13 CODIS loci profiles, victims with partial profiles and
victims with only Profiler PlusTM DNA profiles used in their identifications. Disaster Victim Identification information; the NDDB CODIS
administrators and Dave Morissette (Acting OIC NDDB) for their
Group N value Mean rank
assistance and support; Centre of Forensic Science (Toronto, ON,
1 Complete profile 143 90.33 CA); Laboratoire de sciences judiciaires et de médecine légale
2 Partial profile 22 89.68 (Montréal, QC, CA); RCMP National Forensic Services CODIS
3 AmpF‘STR1 Profiler PlusTMprofile 12 71.83
administrators; Dr. Darrell Williams (RCMP) for his analysis of
Total 177 our data; Dr. George Carmody for his review of our database and
statistical interpretation; and Tim Zolandz, Dr. Douglas Hares,
Scott Carey and Jennifer Luttman for their assistance in reviewing a
Table 8 draft of this paper. We appreciate the strong support and keen
Breakdown of the average JPLR and CLR values for all profile types in the airplane
interest from all involved in making our contribution to the FBI
and Tsunami mass disasters scenarios.
UAT testing of CODIS 6.0 a success.
Complete Partial Profiler PlusTM Mixed profiles
profiles profiles profiles
Appendix A. Supplementary data
JPLR 1.58E+14 4.16E+10 1.97E+09 1.59E+05
N = 127 N = 20 N = 12 N=3
9.55E+17 2.12E+07 Supplementary data associated with this article can be found, in
N = 173 N=2 the online version, at doi:10.1016/j.fsigen.2010.05.005.
CLR 4.53E+16 2.64E+13 3.91E+12 1.20E+05
N = 127 N = 28 N = 12 N=4
1.18E+21 7.30E+10
N = 174 N=2 References
N.B. The Tsunami mean values are shown in bold.
[1] A. Alonso, P. Martin, C. Albarrán, P. Garcia, L. Fernández de Simon, M. Iturralde, A.
Fernández-Rodriguez, I. Atienza, J. Capilla, J. Garcia-Hirschfeld, P. Martinez, G.
The creation of a victim list and use of a manifest when available Vallejo, O. Garcia, E. Garcia, P. Real, D. Álvarez, A. León, M. Sancho, Challenges of
DNA profiling in mass disaster investigations, Croatian Medical Journal 46 (4)
is a valuable option as has been recommended by International (2005) 540–548.
Society for Forensic Genetics (ISFG) [11]. The victims can be cross- [2] B. Leclair, R. Shaler, G. Carmody, K. Eliason, B. Hendrickson, T. Judkins, M. Norton,
referenced with the list as they are identified creating a record of C. Sears, T. Scholl, Bioinformatics and human identification in mass fatality
ncidents: the World Trade Center disaster, Journal of Forensic Sciences 52 (4)
which victims remain to be identified. Even in the case of an open (2007) 806–819.
mass disaster a list can be made of reported missing individuals [3] B. Leclair, Large-scale comparative genotyping and kinship analysis: evolution in
from the relative and investigator interviews. its use for human identification in mass fatality incidents and missing persons
databasing, International Congress Series 261 (2004) 42–44.
[4] B. Leclair, C. Frégeau, K. Bowen, R. Fourney, Enhanced Kinship Analysis and STR-
4. Conclusions based DNA typing for human identification in mass fatality incidents: the Swissair
Flight 111 disaster, Journal of Forensic Sciences 49 (5) (2004) 939–953.
[5] L. Biesecker, J. Bailey-Wilson, J. Ballantyne, H. Baum, F. Bieber, C. Brenner, B.
CODIS 6.0 offers many new features useful for the identification Budowle, J. Butler, G. Carmody, P. Michael Conneally, B. Duceman, A. Eisenberg, L.
of mass disaster victims and missing persons. The new user Forman, K. Kidd, B. Leclair, S. Niezgoda, T. Parsons, E. Pugh, R. Shaler, S. Sherry, A.
interface allows for multiple tabs to be open simultaneously, Sozer, A. Walsh, DNA Identifications after the 9/11 world trade center attack,
Science 310 (2005) 1122–1123.
allowing for smoother navigation while searching and ease of
[6] C. Brenner, B. Weir, Issues and strategies in the DNA identification of World Trade
associating DNA information to pedigree trees in Pedigree Tree Center victims, Theoretical Population Biology 63 (2003) 173–178.
Designer. In addition CODIS 6.0 includes the option of using other [7] B. Budowle, F. Bieber, A. Eisenberg, Forensic aspects of mass disasters: strategic
DNA technologies to assist identifications. Identity searching and considerations for DNA-based human identification, Legal Medicine 7 (2005)
230–243.
the new feature Pedigree Searching, are both available as options [8] B. Leclair, S. Niezgoda, G. Carmody, R. Shaler, Kinship analysis and human
for investigating missing persons and mass disaster identification identification in mass disasters: the use of MASS DISASTERKAP for the world
processes. The new features increase the efficiency of identifying trade center tragedy, in: 13th International Symposium on Human Identification,
2002.
UHRs from mass disasters and reduce the occurrence of fortuitous [9] Lessons Learned from 9/11: DNA Identification in Mass Fatality Incidents. U.S.
matches that cause delays in mass disaster investigations. The Department of Justice, Washington, DC, 2006.
UHRs are identified rapidly and with confidence, provided in the [10] J. Butler, B. McCord, Y-STRs and mtDNA, in: 58th Annual Meeting of the American
Academy of Forensic Sciences, Seattle, Washington, 2006.
calculation of a JPLR or combined likelihood ratio (CLR) value [11] M. Prinz, A. Carracedo, W.R. Mayr, N. Morling, T.J. Parsons, A. Sajantila, R.
(Table 8). Scheithauer, H. Schmitter, P.M. Schneider, DNA Commission of the International
Society for Forensic Genetics (ISFG): recommendations regarding the role of
forensic genetics for disaster victim identification (DVI), Forensic Science Inter-
Acknowledgements
national Genetics 1 (2007) 3–12.
[12] KLM Website, www.klm.com/travel/gb_en/travel_information/on_board/sea
The authors wish to thank Dr. John Planz, Steve Gammon and ting_plans/737-900.htm.
[13] http://www.interpol.int/Public/DisasterVictim/.
Melody Josserand from the University of North Texas for their
[14] Interpol Disaster Guidelines. CBRN. Emergency Management.
generous review of our Y-STR profiles and for supplying our [15] NIST Website, http://www.cstl.nist.gov/div831/strbase/NISTpop.htmm.
anonymous mtDNA sequences. We thank Dr. Benoı̂t Leclair [16] Yhrd Website, www.yhrd.org/rcms/navigation/1000010.html.
(Myriad Genetics Inc., Salt Lake City) for the extensive database [17] http://www.mapquest.com/maps?city=Tofte&state=MN.
[18] SWGDAM Subcommittee on Missing Persons and Mass disasters (2008) (Dr. John
of DNA profiles; Dr. Chantal Frégeau and Dr. Ron Fourney (RCMP) Planz, UNT, Committee Chair).
for consultation on SwissAir Flight 111 victim identification [19] N. Ritter, Identifying remains: lessons learned from 9/11, NIJ 256 (2007).

Downloaded for Ryo Edogawa (ryoedogawa@gmail.com) at Universitas Padjadjaran from ClinicalKey.com by Elsevier on December 11, 2017.
For personal use only. No other uses without permission. Copyright ©2017. Elsevier Inc. All rights reserved.

Potrebbero piacerti anche