Francis Collins: Perbedaan antara revisi

Several scientific teams worked in the 1970s and 1980s to identify genes and their loci as a cause of [[cystic fibrosis]]. Progress was modest until 1985, when [[Lap-Chee Tsui]] and colleagues at Toronto's Hospital for Sick Children identified the locus for the gene.<ref>{{cite journal |last=Tsui |first=LC |author2=Buchwald M |author3=Barker D |title=Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker |url=https://archive.org/details/sim_science_1985-11-29_230_4729/page/1054 |journal=Science |date=November 29, 1985 |volume=230 |issue=4729 |pages=1054–1057 |doi=10.1126/science.2997931 |bibcode = 1985Sci...230.1054T }}<!--|accessdate=May 9, 2014--><!--</ref> It was then determined that a shortcut was needed to speed the process of identification, so Tsui contacted Collins, who agreed to collaborate with the Toronto team and share his chromosome-jumping technique. The gene was identified in June 1989,<ref>{{cite web |url=http://www.hhmi.org/genetictrail/a120.html |title=''Blazing a Genetic Trail/.../Jumping Toward the Gene'' |author=Pines, Maya |publisher=Howard Hughes Medical Institute |year=2008 |accessdate=October 16, 2011}}</ref><ref>{{cite web |url=http://www.hhmi.org/genetictrail/a130.html |title=''Stalking a Lethal Gene:Discovering the Gene for Cystic Fibrosis'' |author=Pines, Maya |publisher=Howard Hughes Medical Institute |year=2008 |accessdate=October 16, 2011}}</ref> and the results were published in the journal ''[[Science (journal)|Science]]'' on September 8, 1989.<ref>{{cite journal |last1=Marx |first1=J. |year=1989 |title=The cystic fibrosis gene is found |journal=Science |volume=245 |issue=4921 |pages=923–5 |bibcode=1989Sci...245..923M |doi=10.1126/science.2772644 |pmid=2772644}}</ref> This identification was followed by other genetic discoveries made by Collins and a variety of collaborators. They included isolation of the genes for [[Huntington's disease]],<ref>{{cite journal |last1=MacDonald |first1=M |year=1993 |title=A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes |journal=Cell |volume=72 |issue=6 |pages=971–83 |doi=10.1016/0092-8674(93)90585-E |pmid=8458085}}</ref> [[neurofibromatosis]],<ref>{{cite book |title=Rubin's Pathology: Clinicopathologic Foundation of Medicine |first1=Raphael |last1=Rubin |first2=David S. |last2=Strayer |publisher=Wolters Kluwer Health: Lippincott Williams & Wilkins |edition=5th |date=2008 |location=Baltimore |pages=201–3 |isbn=978-0-7817-9516-6}}</ref><ref>{{cite book |author=Fauci|title=Harrison's Principles of Internal Medicine (Small textbook) |edition=16th |pages=2453|display-authors=etal}}</ref> [[multiple endocrine neoplasia type 1]],<ref>{{cite journal |last1=Chandrasekharappa |first1=S. C. |last2=Guru |first2=S. C. |last3=Manickam |first3=P |last4=Olufemi |first4=S. E. |last5=Collins |first5=F. S. |last6=Emmert-Buck |first6=M. R. |last7=Debelenko |first7=L. V. |last8=Zhuang |first8=Z |last9=Lubensky |first9=I. A. |last10=Liotta |first10=L. A. |last11=Crabtree |first11=J. S. |last12=Wang |first12=Y |last13=Roe |first13=B. A. |last14=Weisemann |first14=J |last15=Boguski |first15=M. S. |last16=Agarwal |first16=S. K. |last17=Kester |first17=M. B. |last18=Kim |first18=Y. S. |last19=Heppner |first19=C |last20=Dong |first20=Q |last21=Spiegel |first21=A. M. |last22=Burns |first22=A. L. |last23=Marx |first23=S. J. |year=1997 |title=Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1 |journal=Science |volume=276 |issue=5311 |pages=404–7 |doi=10.1126/science.276.5311.404 |pmid=9103196}}</ref> inv(16) AML<ref>Science 261 (5124): 1041–4</ref> and [[Hutchinson–Gilford progeria syndrome]].<ref>{{cite journal |last1=Eriksson |first1=Maria |last2=Brown |first2=W. Ted |last3=Gordon |first3=Leslie B. |last4=Glynn |first4=Michael W. |last5=Singer |first5=Joel |last6=Scott |first6=Laura |last7=Erdos |first7=Michael R. |last8=Robbins |first8=Christiane M. |last9=Moses |first9=Tracy Y. |last10=Berglund |first10=Peter |last11=Dutra |first11=Amalia |last12=Pak |first12=Evgenia |last13=Durkin |first13=Sandra |last14=Csoka |first14=Antonei B. |last15=Boehnke |first15=Michael |last16=Glover |first16=Thomas W. |last17=Collins |first17=Francis S. |year=2003 |title=Recurrent de novo point mutations in lamin a cause Hutchinson–Gilford progeria syndrome |journal=Nature |volume=423 |issue=6937 |pages=293–8 |bibcode=2003Natur.423..293E |doi=10.1038/nature01629 |pmid=12714972}}</ref>