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Article: Cystic fibrosis: Genotypic and phenotypic variations

TitleCystic fibrosis: Genotypic and phenotypic variations
Authors
Keywordscystic fibrosis
genotypes
mutations
phenotypes
polymorphisms
Issue Date1995
PublisherAnnual Reviews. The Journal's web site is located at http://arjournals.annualreviews.org/loi/genet
Citation
Annual Review Of Genetics, 1995, v. 29, p. 777-807 How to Cite?
AbstractCystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identified in 1989 on the basis of its map location on chromosome 7. The encoded gene product, named cystic fibrosis transmembrane conductance regulator (CFTR), corresponds to a cAMP-regulated chloride channel found almost exclusively in the secretory epithelial cells. Although the major mutation that results in a single amino acid deletion (F508) accounts for 70% of the disease alleles, more than 550 additional mutant alleles of different forms have been detected. Many of these mutations can be divided into five general classes in terms of their demonstrated or presumed molecular consequences. In addition, a good correlation has been found between CFTR genotype and one of the clinical variables-pancreatic function status. An unexpected finding, however, is the documentation of CFTR mutations in patients with atypical CF disease presentations, including congenital absence of vas deferens and several pulmonary diseases. Thus, the implication of CFTR mutation is more profound than CF alone.
Persistent Identifierhttp://hdl.handle.net/10722/143109
ISSN
2015 Impact Factor: 12.235
2015 SCImago Journal Rankings: 13.880
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2011-11-01T02:03:08Z-
dc.date.available2011-11-01T02:03:08Z-
dc.date.issued1995en_HK
dc.identifier.citationAnnual Review Of Genetics, 1995, v. 29, p. 777-807en_HK
dc.identifier.issn0066-4197en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143109-
dc.description.abstractCystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identified in 1989 on the basis of its map location on chromosome 7. The encoded gene product, named cystic fibrosis transmembrane conductance regulator (CFTR), corresponds to a cAMP-regulated chloride channel found almost exclusively in the secretory epithelial cells. Although the major mutation that results in a single amino acid deletion (F508) accounts for 70% of the disease alleles, more than 550 additional mutant alleles of different forms have been detected. Many of these mutations can be divided into five general classes in terms of their demonstrated or presumed molecular consequences. In addition, a good correlation has been found between CFTR genotype and one of the clinical variables-pancreatic function status. An unexpected finding, however, is the documentation of CFTR mutations in patients with atypical CF disease presentations, including congenital absence of vas deferens and several pulmonary diseases. Thus, the implication of CFTR mutation is more profound than CF alone.en_HK
dc.languageeng-
dc.publisherAnnual Reviews. The Journal's web site is located at http://arjournals.annualreviews.org/loi/geneten_HK
dc.relation.ispartofAnnual Review of Geneticsen_HK
dc.rightsAnnual Review of Genetics. Copyright © Annual Reviews.-
dc.subjectcystic fibrosisen_HK
dc.subjectgenotypesen_HK
dc.subjectmutationsen_HK
dc.subjectphenotypesen_HK
dc.subjectpolymorphismsen_HK
dc.subject.meshAlternative Splicing-
dc.subject.meshCloning, Molecular-
dc.subject.meshCystic Fibrosis - genetics-
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - chemistry - genetics-
dc.subject.meshGenetic Variation - genetics-
dc.titleCystic fibrosis: Genotypic and phenotypic variationsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0066-4197&volume=29&spage=777&epage=807&date=1995&atitle=Cystic+fibrosis:+genotypic+and+phenotypic+variations-
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1146/annurev.ge.29.120195.004021-
dc.identifier.pmid8825494-
dc.identifier.scopuseid_2-s2.0-0029616734en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0029616734&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume29en_HK
dc.identifier.spage777en_HK
dc.identifier.epage807en_HK
dc.identifier.isiWOS:A1995TL71900029-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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