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Article: DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis

TitleDNA marker haplotype association with pancreatic sufficiency in cystic fibrosis
Authors
Issue Date1989
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1989, v. 44 n. 6, p. 827-834 How to Cite?
AbstractPatients with cystic fibrosis (CF) generally suffer from chronic obstructive lung disease, pancreatic insufficiency (PI), and a number of other exocrine malfunctions. Approximately 15% of CF patients are, however, pancreatic sufficient. To investigate whether the two clinical subgroups, PI and pancreatic sufficiency (PS), are caused by different CF mutant alleles, we have performed linkage disequilibrium and haplotype association analysis with three DNA markers that are tightly linked to the CF locus. The study showed that the allelic and haplotype distributions for these RFLPs are significantly different between the two groups. The data suggest that most of the CF-PI patients are probably descendants of a single mutational event at the CF locus and that the CF-PS patients resulted from multiple, different mutations. While final interpretation of these data awaits molecular cloning of the CF gene, the information on haplotype association in CF may be useful in genetic counseling and disease prognosis, in identifying the gene itself, and in defining the mutations.
Persistent Identifierhttp://hdl.handle.net/10722/42290
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKerem, BSen_HK
dc.contributor.authorBuchanan, JAen_HK
dc.contributor.authorDurie, Pen_HK
dc.contributor.authorCorey, MLen_HK
dc.contributor.authorLevison, Hen_HK
dc.contributor.authorRommens, JMen_HK
dc.contributor.authorBuchwald, Men_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-01-08T02:33:48Z-
dc.date.available2007-01-08T02:33:48Z-
dc.date.issued1989en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 1989, v. 44 n. 6, p. 827-834en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42290-
dc.description.abstractPatients with cystic fibrosis (CF) generally suffer from chronic obstructive lung disease, pancreatic insufficiency (PI), and a number of other exocrine malfunctions. Approximately 15% of CF patients are, however, pancreatic sufficient. To investigate whether the two clinical subgroups, PI and pancreatic sufficiency (PS), are caused by different CF mutant alleles, we have performed linkage disequilibrium and haplotype association analysis with three DNA markers that are tightly linked to the CF locus. The study showed that the allelic and haplotype distributions for these RFLPs are significantly different between the two groups. The data suggest that most of the CF-PI patients are probably descendants of a single mutational event at the CF locus and that the CF-PS patients resulted from multiple, different mutations. While final interpretation of these data awaits molecular cloning of the CF gene, the information on haplotype association in CF may be useful in genetic counseling and disease prognosis, in identifying the gene itself, and in defining the mutations.en_HK
dc.format.extent1169697 bytes-
dc.format.extent30208 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_HK
dc.relation.ispartofAmerican Journal of Human Geneticsen_HK
dc.rightsAmerican journal of human genetics. Copyright © University of Chicago Press.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshAdolescenten_HK
dc.subject.meshCohort studiesen_HK
dc.subject.meshCystic fibrosis - complications - geneticsen_HK
dc.subject.meshDna - analysisen_HK
dc.subject.meshExocrine pancreatic insufficiency - etiology - geneticsen_HK
dc.titleDNA marker haplotype association with pancreatic sufficiency in cystic fibrosisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=44&issue=6&spage=827&epage=834&date=1989&atitle=DNA+marker+haplotype+association+with+pancreatic+sufficiency+in+cystic+fibrosisen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid2567116-
dc.identifier.pmcidPMC1715674-
dc.identifier.scopuseid_2-s2.0-0024317145en_HK
dc.identifier.volume44en_HK
dc.identifier.issue6en_HK
dc.identifier.spage827en_HK
dc.identifier.epage834en_HK
dc.identifier.isiWOS:A1989U854900008-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridKerem, BS=35376353800en_HK
dc.identifier.scopusauthoridBuchanan, JA=7202798142en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK
dc.identifier.scopusauthoridCorey, ML=7005819978en_HK
dc.identifier.scopusauthoridLevison, H=7103193312en_HK
dc.identifier.scopusauthoridRommens, JM=7006884140en_HK
dc.identifier.scopusauthoridBuchwald, M=7006759922en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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