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Article: Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker

TitleCystic fibrosis locus defined by a genetically linked polymorphic DNA marker
Authors
Issue Date1985
PublisherAmerican Association for the Advancement of Science. The Journal's web site is located at http://sciencemag.org
Citation
Science, 1985, v. 230 n. 4729, p. 1054-1057 How to Cite?
AbstractA polymorphic DNA marker has been found genetically linked, in a set of 39 human families, to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in 2000 Caucasian children. The DNA marker (called D0CRI-917) is also linked to the PON locus, which by independent evidence is linked to the CF locus. The best estimates of the genetic distances are 5 centimorgans between the DNA marker and PON and 15 centimorgans between the DNA marker and the CF locus, meaning that the location of the disease gene has been narrowed to about 1 percent of the human genome (about 30 million base pairs). Although the data are consistent with the interpretation that a single locus causes cystic-fibrosis, the possibility of genetic heterogeneity remains. The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.
Persistent Identifierhttp://hdl.handle.net/10722/44214
ISSN
2015 Impact Factor: 34.661
2015 SCImago Journal Rankings: 13.217
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorBuchwald, Men_HK
dc.contributor.authorBarker, Den_HK
dc.date.accessioned2007-09-12T03:49:09Z-
dc.date.available2007-09-12T03:49:09Z-
dc.date.issued1985en_HK
dc.identifier.citationScience, 1985, v. 230 n. 4729, p. 1054-1057en_HK
dc.identifier.issn0036-8075en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44214-
dc.description.abstractA polymorphic DNA marker has been found genetically linked, in a set of 39 human families, to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in 2000 Caucasian children. The DNA marker (called D0CRI-917) is also linked to the PON locus, which by independent evidence is linked to the CF locus. The best estimates of the genetic distances are 5 centimorgans between the DNA marker and PON and 15 centimorgans between the DNA marker and the CF locus, meaning that the location of the disease gene has been narrowed to about 1 percent of the human genome (about 30 million base pairs). Although the data are consistent with the interpretation that a single locus causes cystic-fibrosis, the possibility of genetic heterogeneity remains. The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.en_HK
dc.languageengen_HK
dc.publisherAmerican Association for the Advancement of Science. The Journal's web site is located at http://sciencemag.orgen_HK
dc.relation.ispartofScienceen_HK
dc.rightsScience. Copyright © American Association for the Advancement of Science.en_HK
dc.subject.meshAryldialkylphosphataseen_HK
dc.subject.meshChromosome mappingen_HK
dc.subject.meshCloning, molecularen_HK
dc.subject.meshCystic fibrosis - geneticsen_HK
dc.subject.meshDna restriction enzymes - diagnostic useen_HK
dc.titleCystic fibrosis locus defined by a genetically linked polymorphic DNA markeren_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0036-8075&volume=230&issue=4729&spage=1054&epage=1057&date=1985&atitle=Cystic+fibrosis+locus+defined+by+a+genetically+linked+polymorphic+DNA+markeren_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.pmid2997931-
dc.identifier.scopuseid_2-s2.0-0022350960en_HK
dc.identifier.volume230en_HK
dc.identifier.issue4729en_HK
dc.identifier.spage1054en_HK
dc.identifier.epage1057en_HK
dc.identifier.isiWOS:A1985AUM5800040-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridBuchwald, M=7006759922en_HK
dc.identifier.scopusauthoridBarker, D=7401896232en_HK

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