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Article: Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

TitleIdentification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Authors
Issue Date1991
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Citation
Genomics, 1991, v. 10 n. 1, p. 229-235 How to Cite?
AbstractFive different mutations have been identified in the gene causing cystic fibrosis (CF) through sequencing regions encompassing exons 1-8, including the 5' untranslated leader. Two of these apparent mutations are missense mutations, one in exon 3 (Gly to Glu at position 85; G85E) and another in exon 5 (Gly to Arg at 178; G178R), both causing significant changes in the corresponding amino acids in the encoded protein - cystic fibrosis transmembrane conductance regulator (CFTR). Two others affect the highly conserved RNA splice junction flanking the 3' end of exons 4 and 5 (621 + 1G → T, 711 + 1G → T), resulting in a probable splicing defect. The last mutation is a single-basepair deletion in exon 4, causing a frameshift. These five mutations account for the 9 of 31 non-ΔF508 CF chromosomes in our Canadian CF family collection and they are not found in any of the normal chromosomes. Three of the mutations, 621 + 1G → T, 711 + 1G → T, and G85E, are found in the French-Canadian population, with 621 + 1G → T being the most abundant (5/7). There are two other sequence variations in the CFTR gene; one of them (129G → C) is located 4 nucleotides upstream of the proposed translation initiation codon and, although present only on CF chromosomes, it is not clear whether it is a disease-causing mutation; the other (R75Q) is most likely a sequence variation within the coding region.
Persistent Identifierhttp://hdl.handle.net/10722/44242
ISSN
2015 Impact Factor: 2.386
2015 SCImago Journal Rankings: 1.281
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorBozon, Den_HK
dc.contributor.authorKerem, BSen_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorDurie, Pen_HK
dc.contributor.authorRommens, JMen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:49:43Z-
dc.date.available2007-09-12T03:49:43Z-
dc.date.issued1991en_HK
dc.identifier.citationGenomics, 1991, v. 10 n. 1, p. 229-235en_HK
dc.identifier.issn0888-7543en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44242-
dc.description.abstractFive different mutations have been identified in the gene causing cystic fibrosis (CF) through sequencing regions encompassing exons 1-8, including the 5' untranslated leader. Two of these apparent mutations are missense mutations, one in exon 3 (Gly to Glu at position 85; G85E) and another in exon 5 (Gly to Arg at 178; G178R), both causing significant changes in the corresponding amino acids in the encoded protein - cystic fibrosis transmembrane conductance regulator (CFTR). Two others affect the highly conserved RNA splice junction flanking the 3' end of exons 4 and 5 (621 + 1G → T, 711 + 1G → T), resulting in a probable splicing defect. The last mutation is a single-basepair deletion in exon 4, causing a frameshift. These five mutations account for the 9 of 31 non-ΔF508 CF chromosomes in our Canadian CF family collection and they are not found in any of the normal chromosomes. Three of the mutations, 621 + 1G → T, 711 + 1G → T, and G85E, are found in the French-Canadian population, with 621 + 1G → T being the most abundant (5/7). There are two other sequence variations in the CFTR gene; one of them (129G → C) is located 4 nucleotides upstream of the proposed translation initiation codon and, although present only on CF chromosomes, it is not clear whether it is a disease-causing mutation; the other (R75Q) is most likely a sequence variation within the coding region.en_HK
dc.languageengen_HK
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygenoen_HK
dc.relation.ispartofGenomicsen_HK
dc.subject.meshChromosome deletionen_HK
dc.subject.meshCystic fibrosis - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulatoren_HK
dc.subject.meshDna mutational analysisen_HK
dc.subject.meshExonsen_HK
dc.titleIdentification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) geneen_HK
dc.typeArticleen_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.doi10.1016/0888-7543(91)90504-8en_HK
dc.identifier.pmid1710599-
dc.identifier.scopuseid_2-s2.0-0025909386en_HK
dc.identifier.volume10en_HK
dc.identifier.issue1en_HK
dc.identifier.spage229en_HK
dc.identifier.epage235en_HK
dc.identifier.isiWOS:A1991FK40800029-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridBozon, D=7003759305en_HK
dc.identifier.scopusauthoridKerem, BS=35376353800en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK
dc.identifier.scopusauthoridRommens, JM=7006884140en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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