Alec Jeffreys Explained

Honorific Prefix:Sir
Alec Jeffreys
Birth Date:9 January 1950
Birth Place:Oxford, Oxfordshire, England
Nationality:British
Thesis Url:http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.460797
Thesis Title:Studies on the mitochondria of cultured mammalian cells
Thesis Year:1975
Field:Genetics
Education:University of Oxford (BA, DPhil)
Known For:Genetic fingerprinting

Sir Alec John Jeffreys, (born 9 January 1950) is a British geneticist known for developing techniques for genetic fingerprinting and DNA profiling which are now used worldwide in forensic science to assist police detective work and to resolve paternity and immigration disputes.[1]

Jeffreys is Professor of Genetics at the University of Leicester,[2] [3] and became an honorary freeman of the City of Leicester on 26 November 1992.[4] In 1994, he was knighted by Queen Elizabeth II for services to genetics.[2] [5] [6]

Early life and education

Jeffreys was born into a middle-class family in Oxford, where he spent the first six years of his life until 1956 when the family moved to Luton, Bedfordshire. He says he inherited his curiosity and inventiveness from his father and paternal grandfather, who held a number of patents. When he was eight, his father gave him a chemistry set, which he enhanced over the next few years with extra chemicals, even including a small bottle of sulphuric acid. He says he liked making small explosions, but an accidental splash of the sulphuric acid caused a burn, which left a permanent scar on his chin (now under his beard). His father also bought him a Victorian-era brass microscope, which he used to examine biological specimens. At about 12, he made a small dissecting kit (including a scalpel, crafted from a flattened pin) which he used to dissect a bumblebee, but he got into trouble with his parents when he progressed to dissecting a larger specimen. One Sunday morning he found a deceased cat on the road while doing his paper round and took it home in his bag. He relates that he started to dissect it on the dining room table before Sunday lunch, causing a foul smell throughout the house after he ruptured its intestines.

Jeffreys was a pupil at Luton Grammar School and then Luton Sixth Form College.[7] He won a scholarship to study at Merton College, Oxford on a four-year course, where he graduated in 1971 with first-class honours in biochemistry. Jeffreys completed his Doctor of Philosophy degree on the mitochondria of cultured mammalian cells, as a postgraduate student at the Genetics Laboratory at the University of Oxford.[8]

Career and research

After finishing his doctorate, he moved to the University of Amsterdam, where he worked on mammalian genes as a research fellow,[7] and then to the University of Leicester in 1977, where in 1984 he discovered a method of showing variations between individuals' DNA, inventing and developing genetic fingerprinting.

Genetic fingerprinting

Jeffreys says he had a "eureka moment" in his lab in Leicester after looking at the X-ray film image of a DNA experiment on 10 September 1984, which unexpectedly showed both similarities and differences between the DNA of different members of his technician's family.[1] Within about half an hour, he continued, he realised the possible scope of DNA fingerprinting, which uses variations in the genetic information to identify individuals. The method has become important in forensic science to assist police detective work, and it has also proved useful in resolving paternity and immigration disputes. The method can also be applied to non-human species, for example in wildlife population genetics studies. Before his methods were commercialised in 1987, his laboratory was the only centre in the world that carried out DNA fingerprinting, and was consequently very busy, receiving inquiries from all over the globe.[9]

Jeffreys's DNA method was first put to use in 1985 when he was asked to help in a disputed immigration case to confirm the identity of a British boy whose family was originally from Ghana. The case was resolved when the DNA results proved that the boy was closely related to the other members of the family, and Jeffreys saw the relief in the mother's face when she heard the results. DNA fingerprinting was first used in a police forensic test to identify the killer of two teenagers, Lynda Mann and Dawn Ashworth, who had been raped and murdered in Narborough, Leicestershire, in 1983 and 1986 respectively. Colin Pitchfork was identified and convicted of their murders after samples taken from him matched semen samples taken from the two dead girls. This turned out to be a specifically important identification; British authorities believe that without it an innocent man would have inevitably been convicted. Not only did Jeffreys' work, in this case, prove who the real killer was, but it exonerated Richard Buckland, initially a prime suspect, who likely would have spent his life in prison otherwise. The story behind the investigations is told in Joseph Wambaugh's 1989 best-selling book The Blooding: The True Story of the Narborough Village Murders and the murders and subsequent solving of the crimes was featured in Episode 4 of the first season of the 1996 American TV series Medical Detectives in which Jeffreys himself also appears. A further television mini-series based on these events was released in 2015, Code of a Killer. In 1992, Jeffreys's methods were used to confirm the identity for German prosecutors of the body of Josef Mengele, who had died in 1979, by comparing DNA obtained from a femur bone of his exhumed skeleton,[10] with DNA from his mother and son, in a similar way to paternity testing.

DNA profiling

DNA profiling, based on typing individual highly variable minisatellites in the human genome, was also developed by Alec Jeffreys and his team in 1985,[11] [12] with the term (DNA fingerprinting) being retained for the initial test that types many minisatellites simultaneously. By focusing on just a few of these highly variable minisatellites, DNA profiling made the system more sensitive, more reproducible and amenable to computer databases. It soon became the standard forensic DNA system used in criminal case work and paternity testing worldwide.

The development of DNA amplification by the polymerase chain reaction (PCR) opened up new approaches to forensic DNA testing, allowing automation, greatly increased sensitivity, and a move to alternative marker systems. The most commonly used markers are now variable microsatellites, also known as short tandem repeats (STRs), which Jeffreys first exploited in 1990 in the Mengele case.[13] STR profiling was further refined by a team of scientists led by Peter Gill at the Forensic Science Service in the 1990s, allowing the launch of the UK National DNA Database (NDNAD) in 1995. With highly automated and sophisticated equipment, modern-day DNA profiling can process hundreds of samples each day. Sixteen microsatellites, plus a marker for sex determination, are used with the current system developed for the NDNAD, giving a discrimination power of one in over a billion. Under British law, anyone arrested in England, Wales or Northern Ireland has their DNA profile taken and stored on the database whether or not they are convicted (different rules apply in Scotland). The national database in 2020 contained the DNA information of about 5.6 million people.[14] Jeffreys has opposed the current use of DNA profiling, where the government has access to that database, and has instead proposed a database of all people's DNA, access to which would be controlled by an independent third party.

Awards and honours

Personal life

Jeffreys met his future wife, Sue Miles, in a youth club in the centre of Luton, Bedfordshire, before he became a university student,[7] and they married on 28 August 1971.[36] Jeffreys has one brother and one sister; he and his wife have two daughters, born in 1979 and 1983.[36]

Notes and References

  1. http://news.bbc.co.uk/1/hi/programmes/newsnight/8245312.stm DNA pioneer's 'eureka' moment
  2. Zagorski. Nick . Profile of Alec J. Jeffreys. 10.1073/pnas.0603953103 . Proceedings of the National Academy of Sciences . 103 . 24 . 8918–8920 . 2006 . 16754883 . 1482540 . 2006PNAS..103.8918Z . free .
  3. Web site: Staff pages: Professor Sir Alec J. Jeffreys FRS . 15 December 2007. University of Leicester. https://web.archive.org/web/20091026015206/http://www.le.ac.uk/genetics/pages/staff/staff_pages/jeffreys.html . 26 October 2009 . dead.
  4. Web site: List of persons upon whom the honorary freedom of the city has been conferred . 15 December 2007 . Leicester City Council . https://web.archive.org/web/20090414130133/http://www.leicester.gov.uk/about-leicester/lordmayorcivic/freemen/honorary-freemen/list-of-freemen . 14 April 2009 . dead.
  5. 24245655. 3831583. 2013. Jeffreys. A. J.. The man behind the DNA fingerprints: An interview with Professor Sir Alec Jeffreys. Investigative Genetics. 4. 1. 21. 10.1186/2041-2223-4-21. free.
  6. News: Jeffreys reflects on DNA finding. 11 September 2009. BBC News.
  7. Web site: The Gene Genius . September 2004 . University of Leicester . https://web.archive.org/web/20111109215809/http://www.le.ac.uk/ua/pr/gen%20supp.pdf . 9 November 2011 . dead.
  8. DPhil . Alec . Jeffreys . Studies on the mitochondria of cultured mammalian cells . University of Oxford . 1975 . bodleian.ox.ac.uk . . 500483911 . 29 March 2018 . 27 May 2020 . https://web.archive.org/web/20200527135043/http://solo.bodleian.ox.ac.uk/primo-explore/fulldisplay?vid=SOLO&docid=oxfaleph019879695&context=L&search_scope=LSCOP_OX . dead .
  9. Web site: Discovering DNA fingerprinting: Sir Alec Jeffreys describes its development . . 4 February 2004 . Giles . Newton . 23 December 2007 . https://web.archive.org/web/20100305135415/http://genome.wellcome.ac.uk/doc_wtd020877.html . 5 March 2010 . dead.
  10. Hodgson . J. . Ten years of biotech gaffes. 10.1038/nbt0306-270. Nature Biotechnology. 24. 3. 270–273. 2006. 16525384. 560311 .
  11. Jeffreys . A. . Wilson . V. . Thein . S. . Hypervariable 'minisatellite' regions in human DNA . Nature . 314 . 6006 . 67–73 . 1985 . 3856104. 10.1038/314067a0. 1985Natur.314...67J . 4356170 .
  12. Jeffreys . A. . Wilson . V. . Thein . S. . Individual-specific 'fingerprints' of human DNA . Nature . 316 . 6023 . 76–79 . 1985. 2989708. 10.1038/316076a0 . 1985Natur.316...76J. 4229883 . free .
  13. Jeffreys . A. . Allen . M. . Hagelberg . E. . Erika Hagelberg. Sonnberg . A. . Identification of the skeletal remains of Josef Mengele by DNA analysis . Forensic Science International . 56 . 1 . 65–76 . 1992 . 1398379 . 10.1016/0379-0738(92)90148-P.
  14. Book: September 2020. National DNA Database Strategy Board Biennial Report 2018 – 2020. https://web.archive.org/web/20220810222405/https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/913015/NDNAD_Strategy_Board_AR_2018-2020_print.pdf . 2022-08-10 . live. 6 November 2020. UK Home Office. Her Majesty's Stationery Office. 10. 978-1-5286-1916-5.
  15. Web site: https://web.archive.org/web/20150316060617/https://royalsociety.org/about-us/fellowship/fellows/. 2015-03-16. Fellows of the Royal Society. Royal Society. London.
  16. Web site: List of Fellows of the Royal Society: 1660–2007: A – J. The Royal Society. 9 October 2007. https://web.archive.org/web/20071212012200/http://royalsociety.org/downloaddoc.asp?id=4274. 12 December 2007.
  17. Web site: Sir Alec Jeffreys FRS – DNA fingerprinting . The Royal Society . 15 December 2007 . https://web.archive.org/web/20080609102605/http://royalsociety.org/page.asp?id=1523 . 9 June 2008 . live.
  18. Book: Evans. Colin. Evidence. 2010. Chelsea House. New York. 978-1-60413-615-9. 77.
  19. Web site: 188th Congregation (2013). University of Hong Kong. 3 April 2015. 18 April 2015. https://web.archive.org/web/20150418085509/http://www4.hku.hk/hongrads/index.php/archive/graduate_detail/317. dead.
  20. Book: Newton. David E.. DNA evidence and forensic science. 2008. Facts on File. New York. 978-0-8160-7088-6. 100–101. registration. 3 April 2015.
  21. Web site: ISFG - About/Honorary Members . www.isfg.org . 8 September 2019.
  22. Web site: 1998 Australia Prize PROFESSOR SIR ALEC JEFFREYS (UK) . Australian Government Department of Industry . 3 April 2015 . dead . https://web.archive.org/web/20150118041828/https://grants.innovation.gov.au/SciencePrize/Pages/Doc.aspx?name=previous_winners%2FAust1998Jeffreys.htm . 18 January 2015.
  23. Book: Sleeman. Elizabeth. The international who's who 2004.. 2003. Europa. London. 978-1-85743-217-6. 813. 67th.
  24. Web site: Association for Molecular Pathology Past Award Recipients. 3 March 2023.
  25. https://archive.today/20120906151946/http://www.prideofbritain.com/contentpages/winners/2004/sir-alec-jeffreys.aspx The Pride of Britain Awards – Lifetime Achievement, Sir Alec Jeffreys
  26. Web site: 2005 Albert Lasker Award – Acceptance remarks by Alec Jeffreys. 19 December 2007 . Lasker Foundation. https://web.archive.org/web/20071215162525/http://www.laskerfoundation.org/awards/library/2005_jeffreys.shtml. 15 December 2007.
  27. Web site: 2005 Albert Lasker Award for Clinical Medical Research. 19 December 2007 . Lasker Foundation. https://web.archive.org/web/20071211191805/http://www.laskerfoundation.org/awards/library/2005clinical.shtml . 11 December 2007.
  28. Web site: Alec Jeffreys NAS biography. 9 February 2009. NAS website. https://web.archive.org/web/20090414111602/http://www.nasonline.org/site/Dir/12573455?pg=vprof&mbr=1006666&returl=http%3A%2F%2Fwww.nasonline.org%2Fsite%2FDir%2F12573455%3Fpg%3Dsrch%26view%3Dbasic&retmk=search_again_link. 14 April 2009. dead.
  29. News: University of Leicester Professor Voted 'Great Briton of 2006'. 3 April 2015. University of Leicester News. 19 January 2007.
  30. Web site: The University of Huddersfield's 2009 Honorary Award recipients . University of Huddersfield . 9 December 2009 . https://web.archive.org/web/20100710135432/http://www.hud.ac.uk/awards/honorary_awards.html . 10 July 2010 . dead.
  31. News: DNA mastermind Sir Alec Jeffreys officially opens Leicester specialist college. Leicester Mercury. 22 April 2010. 3 April 2015. dead. https://web.archive.org/web/20150408201522/http://www.leicestermercury.co.uk/DNA-mastermind-officially-opens-specialist-college/story-12056006-detail/story.html. 8 April 2015.
  32. Web site: ABRF Annual Award for Outstanding Contributions to Biomolecular Technologies . dead . https://web.archive.org/web/20110122150951/http://conf.abrf.org/index.cfm/page/awards/ABRF_Award.htm . 22 January 2011 .
  33. Web site: The 'Father' of DNA fingerprinting opens the new Scientific Support Building in Wakefield. 3 May 2012. 18 June 2020. 21 June 2020. https://web.archive.org/web/20200621154921/https://www2.le.ac.uk/offices/press/press-releases/2012/may/the-father-of-dna-fingerprinting-opens-the-new-scientific-support-building-in-wakefield. dead.
  34. Web site: Sir Alec Jeffreys to receive honorary degree from de Montfort University – University of Leicester . 7 June 2018 . 12 June 2018 . https://web.archive.org/web/20180612140525/https://www2.le.ac.uk/staff/community/people/staffupdates/2014/january/sir-alec-jeffreys-to-receive-honorary-degree-from-de-montfort-university . dead .
  35. Web site: The New Year's Honours List 2017. https://web.archive.org/web/20161231075327/https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/580999/new-years-honours-2017-full-list.pdf . 2016-12-31 . live . 31 December 2016.
  36. Book: Debrett's People of Today 2005. 2005. 18th. 1-870520-10-6. Debrett's. 857.

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