File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutations

TitleAnalysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutations
Authors
Issue Date1993
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 1993, v. 2 n. 6, p. 683-687 How to Cite?
AbstractWe have analyzed the CFTR mRNA populations in a cystic fibrosis patient heterozygous for the 621 + 1G → T and 711 + 1G → T mutations. Total RNA isolated from the nasal epithelial cells and Epstein-Barr virus-transformed lymphoblasts derived from this patient was reversely transcribed and a region extending from exon 3 to exon 7 of the gene was amplified by the polymerase chain reaction and analyzed. Three abnormal products were identified, suggesting the presence of three aberrant transcripts, and their profiles were identical in both cell types. Two of the products were found to be missing either exon 4 or exon 5 as anticipated from the transcripts from the 621 + 1G → T or 711 + 1G → T alleles, respectively. The third product was apparently derived from an alternatively spliced mRNA species in the absence of the nominal splice site (in 621 + 1G → T) through the use of a cryptic splice donor sequence (TT 528/GTGAGG) within exon 4. Although reading frames appeared to be preserved in all three putative transcripts, significant portions of the presumed first and second transmembrane spans as well as the immediately following cytoplasmic domain would be deleted from the mutant CFTR polypeptides, if made. These observations are consistent with a loss of CFTR function in this cystic fibrosis patient.
Persistent Identifierhttp://hdl.handle.net/10722/44263
ISSN
2015 Impact Factor: 5.985
2015 SCImago Journal Rankings: 4.288
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorBozon, Den_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorAubin, Gen_HK
dc.contributor.authorSimard, Fen_HK
dc.contributor.authorRommens, JMen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:50:11Z-
dc.date.available2007-09-12T03:50:11Z-
dc.date.issued1993en_HK
dc.identifier.citationHuman Molecular Genetics, 1993, v. 2 n. 6, p. 683-687en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44263-
dc.description.abstractWe have analyzed the CFTR mRNA populations in a cystic fibrosis patient heterozygous for the 621 + 1G → T and 711 + 1G → T mutations. Total RNA isolated from the nasal epithelial cells and Epstein-Barr virus-transformed lymphoblasts derived from this patient was reversely transcribed and a region extending from exon 3 to exon 7 of the gene was amplified by the polymerase chain reaction and analyzed. Three abnormal products were identified, suggesting the presence of three aberrant transcripts, and their profiles were identical in both cell types. Two of the products were found to be missing either exon 4 or exon 5 as anticipated from the transcripts from the 621 + 1G → T or 711 + 1G → T alleles, respectively. The third product was apparently derived from an alternatively spliced mRNA species in the absence of the nominal splice site (in 621 + 1G → T) through the use of a cryptic splice donor sequence (TT 528/GTGAGG) within exon 4. Although reading frames appeared to be preserved in all three putative transcripts, significant portions of the presumed first and second transmembrane spans as well as the immediately following cytoplasmic domain would be deleted from the mutant CFTR polypeptides, if made. These observations are consistent with a loss of CFTR function in this cystic fibrosis patient.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Geneticsen_HK
dc.subject.meshB-lymphocytes - metabolismen_HK
dc.subject.meshCystic fibrosis - blood - genetics - pathologyen_HK
dc.subject.meshEpithelium - pathologyen_HK
dc.subject.meshMembrane proteins - biosynthesis - geneticsen_HK
dc.subject.meshRna splicingen_HK
dc.titleAnalysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutationsen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1093/hmg/2.6.683-
dc.identifier.pmid7689008-
dc.identifier.scopuseid_2-s2.0-0027298522en_HK
dc.identifier.volume2en_HK
dc.identifier.issue6en_HK
dc.identifier.spage683en_HK
dc.identifier.epage687en_HK
dc.identifier.isiWOS:A1993LH89200011-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridBozon, D=7003759305en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridAubin, G=7006702439en_HK
dc.identifier.scopusauthoridSimard, F=7003983457en_HK
dc.identifier.scopusauthoridRommens, JM=7006884140en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats