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The Gene Genius (PDF, 546KB) The Gene Genius September 2004 marks the 20th Anniversary of the discovery of DNA Genetic Fingerprinting at the University of Leicester by Professor Sir Alec Jeffreys. Here we highlight the impact of the revolutionary discovery. More information on the Department of Genetics at the University of Leicester and Professor Sir Alec Jeffreys is available on www.le.ac.uk INSIDE The Eureka Moment The Appliance of Science Tribute to Talent Beyond Fingerprinting Moment of Truth “My life changed on Monday morning at 9.05 am, 11 September 1984,” Professor Sir Alec Jeffreys said, describing the moment when he discovered the world’s first genetic fingerprint. “In science it is unusual to have such a process may well have been damaged in Again, its first application caught the ‘eureka’ moment,” he added. “We were the courts. But our first application was public mood. Two young girls were raped getting extraordinarily variable patterns of to save a young boy from deportation and and murdered in the Enderby area of DNA, including from our technician and it captured the public’s sympathy and Leicestershire. A man who had been her mother and father, as well as from imagination. It was science helping an arrested had confessed to one murder but non human samples. My first reaction to individual challenge authority.” not the other, and the police decided to the results was ‘this is too complicated’, and then the penny dropped and I The first paternity case came hot on use genetic profiling, thinking to prove realised we had genetic fingerprinting.” the heels of that dispute and then – in Sir him guilty of both cases. Against all This momentous discovery, accidental Alec’s words – “the flood gates opened”. expectation he was found to be innocent as it was, opened up a new area of At this point, all cases were dealt with by of both. Then the hunt was on to find a science. The research team immediately the Leicester laboratory. Sir Alec was a genetic profile among the entire male grasped its applications, including research fellow for the Lister Institute population of the area that matched crime, paternity and identical twins, as who gave him funding to take on another samples taken from the two victims. No well as work on conservation and technician to enable them to run tests on match was found, until Colin Pitchfork diversity among non-human species. a larger scale and for two years his was was overheard boasting of how he had Later that day Sir Alec’s wife added the only laboratory in the world doing this persuaded a friend to give a sample on another to the list – immigration. “That work. He describes it as “exciting but his behalf. Pitchfork was tested, his DNA was when I realised this had a political exhausting”, and had no regrets when ICI found to match and the case was solved. dimension and that it could change the (now AstraZeneca) were granted a licence The original technology used to catch face of immigration disputes, especially to set up Cellmark and make the Pitchfork is now largely obsolete, though where no documentary evidence technology commercially available. still in use in some laboratories around existed.” At this time the forensic implications of the world. But the techniques have been The first real immigration case came genetic fingerprinting were emerging. The speeded up and simplified. In the UK we in March 1985, a decade earlier than original process proved to be inadequate now have a national database of 2.5 Sir Alec had anticipated, driven by the for this, and so from 1985 Sir Alec and million genetic profiles from convicted demand from families and lawyers. “If his team developed a variation which criminals, which the police say is one of our first case had been forensic I believe they called “genetic profiling” for forensic the most powerful tools in their fight it would have been challenged and the use. against crime. 2 3 The father and the mother’s sisters in A Question of Identity Ghana were unavailable for testing. Added to this was that the mother DNA genetic fingerprinting reunited a young boy with his family in wasn’t sure of the boy’s paternity. However DNA evidence was the first immigration case solved by DNA evidence in 1985. conclusive. The boy was a full member The dispute involved a family of UK citi- Following blood typing it was of the family and had the same paternity zens originally from Ghana. The youngest concluded that the returning boy was a as the rest of the children. It was son had visited Ghana but on his return it member of the family, but it couldn’t be 99.997% certain the boy was the son of was discovered that his passport had been determined if he was the son, or a the British mother and not a nephew. tampered. The Immigration Authorities nephew from Ghana. The evidence was reviewed positively thought that the boy was a substitute - Professor Alec Jeffreys was asked to by the Home Office, and the case was either unrelated to the family or the son of use his revolutionary new technique of dropped against the boy who was one the mother’s sister in Ghana. He was DNA fingerprinting to help solve the reunited with his family. not granted residence. question of identity. “The Angel of Death” Josef Mengele was a Nazi war criminal notorious for grotesque human experiments that he carried out at the Auschwitz concentration camp. After the Second World War he fled from identification. the Allies and escaped to South America. The German government, keen to close The fugitive succeeded in living out the this chapter of their history agreed and rest of his days without being caught. asked Professor Sir Alec Jeffreys and Dr. In 1985 investigators went to the Erika Hagelberg, then of the Institute of cemetery of Nossa Senhora do Rosario in Molecular Medicine at Oxford, who is an the small Brazilian town of Embu to dig expert at extracting DNA from bones, for up the skeleton of a man who had been their help in determining whether or not the drowned in a swimming accident six skeleton was that of Mengele. years previously. He has been buried Using DNA extracted from blood provided under the name Wolfgang Gerhard, but by Mengele’s wife and son, it was the investigators had information that the concluded that it was more than 99.94% deceased individual was actually certain that the skeleton was Mengele’s. Mengele. Paternally inherited DNA markers were Various forensic investigations took compared with those of DNA extracted from place - indicating the body was the war the femur of the skeleton. All were present criminal. in the bone DNA, exactly as predicted if the However, the Israeli authorities were skeleton was that of Mengele. sceptical and in 1988 they suggested The German and Israeli governments that DNA analysis should be used to were convinced by this evidence and the Josef Mengele. provide an alternative approach to case of the fugitive war criminal was closed. Traced through DNA The applications and developments in DNA genetic fingerprinting man whose profile was on the database. are still ongoing and recently yet another crime was solved He was convicted and sentenced to six years imprisonment – the first man to be through another novel application of the scientific technique. convicted on the evidence based on the link between DNA found at the scene of In 2003 Michael Little was killed by a Database – however no matches were the crime and that of a relative of the accused. brick thrown from a motorway bridge as he recorded. The forensic investigators turned drove his lorry down the M3. The impact of UK police forces have access to the to the pioneering method of ‘familial the brick caused fatal damage to his heart, world’s first and largest DNA database searching’ – based on the principle that but not before he had steered his lorry to containing more than 2.5 million samples. safety on the hard shoulder and switched relatives will tend to have similar DNA The size of this database and the success off the engine before dying. profiles. of the technique of ‘familial searching’ Traces of DNA were found on the brick A similar DNA profile was found – and could lead to the solving of other crimes and run through the National DNA this traced the culprit – the brother of a that have baffled police for years. 4 Karen Price In 1989 builders working in the back garden of a derelict house in Cardiff discovered the badly decomposed body of a murder victim wrapped in a piece of old carpet. Skeletal analysis showed that it was the her murder the identification had to be body of a young female. confirmed and the South Wales The skull was used to make a facial Constabulary contacted Professor reconstruction and also to compare the Jeffreys and Dr. Hagelberg and asked teeth with dental records. There was them for their help with this by using little other evidence that could be used DNA analysis. DNA was extracted from to identify the remains. skeletal remains by Dr. Hagelberg and Entomologists (insect experts) were used for a parentage analysis in called in and examination of the Professor Jeffreys’ laboratory. creatures living in the carpet led them to Alleles of variable loci from the bone estimate that the victim had been buried DNA were compared with those from some ten years previously. DNA extracted from the mother and Someone recognised the facial father of the supposed murder victim, reconstruction as Karen Price, a local 15 Karen Price.
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