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KINSHIP ANALYSIS

DNA-Based Kinship Analysis

By Chris Maguire and Michael Woodward The Forensic Science Service, Birmingham,

What is kinship analysis? Relatedness between individuals and groups can be investigated using DNA For kinship analysis, markers. A child’s DNA profile is a combination of alleles passed down from the autosomal STR father and mother. This means that relationships can be investigated between markers are the most alleged family members. discriminating and are DNA profiling is commonly used to test for potential paternity, parentage and used routinely in The sibship (whether people are related as brothers or sisters) relationships. In many Forensic Science forensic cases more complex relationships have to be considered. Service. In addition, What are common applications of kinship analysis? mitochondrial DNA In The Forensic Science Service’s experience, common applications of kinship can be used to analysis are paternity, forensic casework and immigration disputes. More unusual examine the maternal circumstances can include identifying victims of mass disasters or recovered remains in missing person enquiries. The Forensic Science Service has designed line, and Y-STRs are the FSS-ibd application to analyse all of these types of relationship problems and used to study to be particularly useful in more complex relationship scenarios, where the paternal-line software application can complete the analysis in minutes. It is an effective tool inheritance patterns. that is cost-efficient, reduces processing times and creates unique reports according to the user’s programmed specifications. The FSS routinely uses kinship analysis in forensic casework and commercial applications for clients in the UK and internationally. Case Example 1 Hyo Jung Jin and In Hea Song—The body in a suitcase mystery solved The discovery of an almost-naked female body in a suitcase near left police and scientists almost no clues as to her identity or who had killed her. But a stroke of luck helped detectives name the dead woman, and an investigation stretching across three continents began after her death was linked to the murder of a second Korean woman in London. The gruesome discovery was made in November 2001 after a man walking along a lane in Askham Richard, North , spotted the suitcase and became suspicious when he was unable to lift it. The body inside appeared to be that of a young woman of Asian origin; her face was bound with distinctive tape. Examination of the body by an anthropologist from Glasgow and ethnic testing carried out by The Forensic Science Service (FSS) using the red-hair analysis test as an ethnic marker, confirmed that the woman was South East Asian (Oriental) rather than Indo-Pakistani. Despite dental examination, DNA analysis and fingerprint recovery, investigators could not identify her, so a portfolio of this information was prepared for Interpol. Her details were matched to a Southeast Asian web site listing missing people. The Korean government holds fingerprints of citizens for official purposes, and these were used to help identify the body of Hyo Jung Jin. The 21-year-old student at Lyon University had come from France to an address in west London on a

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sightseeing trip but had disappeared What types of markers are most Tsar Nicholas II, his wife Tsarina almost immediately. Her death was useful for kinship analysis? Alexandra and their five children Olga, quickly linked to the disappearance of The circumstances of every case will Tatiana, Maria, Anastasia and Alexei a second Korean student, In Hea be very different, and the scientist will were executed by Bolshevik troops following months of captivity. They Song, whose body was later found in select the technique to yield the most were shot in the house of a local a concealed cupboard in March 2002 useful information according to these. merchant on 17 July 1918. at an east London address in Poplar. Facility resources also may dictate The landlord of both properties was which processes are deemed most Their bodies were to have been 31-year-old Kyo Soo Kim. suitable. transported to a mine shaft for The death of Miss Jin and the disposal. However, the transport truck Autosomal STR markers are the most developed a mechanical fault along disappearance but later the death of, discriminating and are used routinely Miss Song were investigated jointly the way. A shallow grave was hastily in The Forensic Science Service. dug on the roadside, then the bodies following a meeting between the North Mitochondrial DNA can be used to Yorkshire Police, Metropolitan Police were burned and sprayed with acid to examine the maternal line, and Y-STRs make them unidentifiable. The bodies and The FSS. FSS scientists produced are used to study paternal-line a range of evidence, which the of two of the children never were inheritance patterns. Mitochondrial found. prosecution used to link Kim with the DNA and Y-STRs can provide useful Despite the collection of extensive discovery of the suitcase. The landlord information; however, the discriminating forensic evidence, this version of had been living at the west London power is lower than that of autosomal events never had been positively address when Miss Jin went missing. STRs. verified, and in 1992 The Forensic DNA kinship analysis was used to Science Service (FSS) was approached identify the body of Miss Song, found by the Russian authorities to initiate in the concealed cupboard in Poplar, an Anglo-Russian investigation to by comparing the dead woman’s DNA Following an extensive authenticate the remains using DNA profile with DNA profiles obtained from kinship analysis using analysis. her parents. autosomal STR and Using samples taken from the surviving Evidence from a property in Canada, bones, The FSS performed DNA-based where Kim had been staying, linked mitochondrial markers, The FSS concluded that sex testing and STR analysis, the him to the body in the cupboard. Miss results of which confirmed that a Song had been gagged and bound the bones are those of family group was present in the grave. with tape. Orange paint found on a the last Tsar, Nicholas II, In addition, mitochondrial DNA T-shirt taken from a house in Toronto and his family. analysis was employed. matched paint found on the tape used Mitochondrial DNA is a tiny amount of to bind her wrists. DNA taken from the the total DNA present and can be T-shirt matched Kim, linking all three used when samples are too small, old elements. In addition, property in the or degraded for analysis by normal cupboard with Miss Song was linked Case Example 2 means. Where there is no body fluid by DNA to Miss Jin. The Romanovs—The mystery of the or tissue available mitochondrial DNA Following a trial at the Old Bailey in Russian family solved can be taken from bone. Mitochondrial 2003, Kim was convicted of both Skeletons found by construction DNA is more likely to survive for murders and sentenced to life workers in a shallow grave in prolonged periods than chromosomal imprisonment. Yekaterinburg, Russia, in July 1991 DNA and is particularly suited to were tentatively identified as the tracing maternal inheritance and testing relatedness if there are several remains of the last Tsar, Tsarina and generations between ancestor and three of their five children—the living descendant. Romanov family. Following this extensive analysis, The FSS concluded that the bones are those of the last Tsar and his family.

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What are some limitations of kinship How often does The Forensic Science Who would benefit from using kinship analysis? Service perform kinship analysis? analysis software? The Forensic Science Service The FSS undertakes kinship analysis Development of software solutions in understands that there are limitations on a daily basis when cases involve The FSS is driven by the need to to kinship analysis. The ‘strength of body identification, familial searching, improve efficiency and quality in evidence’ can depend on a number of incest and relationship testing for forensic processes and/or drive down factors such as the availability of questioned paternity or immigration analysis costs. By making the close relatives for testing. The casework. application commercially available we potential evidential strength of a What tools are available to labs can bring these benefits to other kinship analysis decreases as the interested in using kinship analysis? international forensic laboratories. genetic ‘distance’ between the individuals increases. The Forensic The Forensic Science Service has Science Service would expect kinship introduced a product called FSS-ibd, analysis to provide a higher level of which automates relationship The Forensic Science evidence if the case involved two analysis. It can improve the speed, efficiency and cost-effectiveness of Service has introduced the parents and a child rather than two FSS-ibd software, which half siblings. a laboratory process dramatically. automates relationship In some instances scientists may FSS-ibd accepts input files from the 3 analysis, to improve suspect that a genetic mutation has FSS-i ™ Expert Systems Software and occurred. A mutation is a genetic event other commercially available analysis speed, efficiency and where an allele changes identity when systems, and data can be added cost-effectiveness. transmitted from parent to child. In manually. The relationship ‘problem’ relationship analysis this is often is defined by drawing pedigree trees perceived as an apparent using a graphic user interface inconsistency in the Mendelian pattern (Figure 2). DNA profiles generated for The FSS-ibd has application in a wide of inheritance, such that at one locus a individuals involved in a case or range of laboratory casework child apparently inherits an allele that investigation are assigned to the situations where relationship analysis is not represented in either parent. An pedigree. FSS-ibd takes care of the plays a part: example is shown in Figure 1. mathematics—even for complex analyses. • Forensic relationship analyses, including incest FSS-ibd can analyse data using a 9, 12 10, 14 variety of user-defined parameters, • Paternity or parentage issues including: mutation, theta corrections • Immigration and nationality testing for population data and size-bias • Identification of missing persons corrections for rare alleles, and can use any of the commercially available • Identification of victims of mass STR systems. In addition, FSS-ibd can fatality incidents 9, 13 be programmed to produce user- FSS-ibd even has the potential for use specific reports. in animal pedigree testing. As long as the laboratory uses an STR marker Figure 1. An inconsistency in the Mendelian system for the pedigree analysis, data pattern of inheritance. The 'mother' has apparently passed the '9' allele to the child. If can be added to the FSS-ibd the 'putative father' is the natural father of the application. The user can input new child, he has passed either the '10' or '14' multiplexes and allele frequency allele, and there has been a mutation event tables. with the transition '10' to '13' or '14' to '13'.

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Figure 2. The interface for the FSS-ibd software for relationship analysis.

What are some unique features of User-definable STR marker systems FSS-ibd also creates a user-defined the FSS-ibd software? and allele frequency databases can technical audit file, which contains Like all of our DNA expert systems, be added to the FSS-ibd application. case details, process settings, DNA FSS-ibd is built to the highest scientific In this way the user defines the profiles, allele frequencies, and technical standards. It has a clear parameters used to calculate probabilities for each hypothesis by graphical interface in which pedigrees probabilities and likelihood ratios from locus, likelihood ratio by locus and can be built rapidly (by a ‘drag and the hypotheses under test. The overall likelihood ratio. The application drop’ technique) and adapted to analysis parameters can be chosen to also has the functionality to produce represent the specific case under reflect laboratory-specific requirements user-defined statements or reports. investigation. to take account of rare alleles (minimum default frequencies or size- bias corrections), mutations and Theta values (coefficient of inbreeding of a population).

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