File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

TitleGenomic DNA sequence 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. 214-228 How to Cite?
AbstractThe gene responsible for cystic fibrosis, the most common severe autosomal recessive disorder, is located on the long arm of human chromosome 7, region q31-q32. The gene has recently been identified and shown to be approximately 250 kb in size. To understand the structure and to provide the basis for a systematic analysis of the disease-causing mutations in the gene, genomic DNA clones spanning different regions of the previously reported cDNA were isolated and used to determine the coding regions and sequences of intron/exon boundaries. A total of 22,708 bp of sequence, accounting for approximately 10% of the entire gene, was obtained. Alignment of the genomic DNA sequence with the cDNA sequence showed perfect colinearity between the two and a total of 27 exons, each flanked by consensus splice signals. A number of repetitive elements, including the Alu and Kpn families and simple repeats, such as (GT) 17, (GATT) 7, and (TA) 14, were detected in close vicinity of some of the intron/exon boundaries. At least three of the simple repeats were found to be polymorphic in the population. Although an internal amino acid sequence homology could be detected between the two halves of the predicted polypeptide, especially in the regions of the two putative nucleotide-binding folds (NBF1 and NBF2), the lack of alignment of the nucleotide sequence as well as the different positions of the exon/intron boundaries does not seem to support the hypothesis of a recent gene duplication event. To facilitate detection of mutations by direct sequence analysis of genomic DNA, 28 sets of oligonucleotide primers were designed and tested for their ability to amplify individual exons and the immediately flanking sequences in the introns.
Persistent Identifierhttp://hdl.handle.net/10722/44241
ISSN
2014 Impact Factor: 2.284
2014 SCImago Journal Rankings: 1.457
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorRozmahel, Ren_HK
dc.contributor.authorBozon, Den_HK
dc.contributor.authorKerem, BSen_HK
dc.contributor.authorGrzelczak, Zen_HK
dc.contributor.authorRiordan, JRen_HK
dc.contributor.authorRommens, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:49:42Z-
dc.date.available2007-09-12T03:49:42Z-
dc.date.issued1991en_HK
dc.identifier.citationGenomics, 1991, v. 10 n. 1, p. 214-228en_HK
dc.identifier.issn0888-7543en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44241-
dc.description.abstractThe gene responsible for cystic fibrosis, the most common severe autosomal recessive disorder, is located on the long arm of human chromosome 7, region q31-q32. The gene has recently been identified and shown to be approximately 250 kb in size. To understand the structure and to provide the basis for a systematic analysis of the disease-causing mutations in the gene, genomic DNA clones spanning different regions of the previously reported cDNA were isolated and used to determine the coding regions and sequences of intron/exon boundaries. A total of 22,708 bp of sequence, accounting for approximately 10% of the entire gene, was obtained. Alignment of the genomic DNA sequence with the cDNA sequence showed perfect colinearity between the two and a total of 27 exons, each flanked by consensus splice signals. A number of repetitive elements, including the Alu and Kpn families and simple repeats, such as (GT) 17, (GATT) 7, and (TA) 14, were detected in close vicinity of some of the intron/exon boundaries. At least three of the simple repeats were found to be polymorphic in the population. Although an internal amino acid sequence homology could be detected between the two halves of the predicted polypeptide, especially in the regions of the two putative nucleotide-binding folds (NBF1 and NBF2), the lack of alignment of the nucleotide sequence as well as the different positions of the exon/intron boundaries does not seem to support the hypothesis of a recent gene duplication event. To facilitate detection of mutations by direct sequence analysis of genomic DNA, 28 sets of oligonucleotide primers were designed and tested for their ability to amplify individual exons and the immediately flanking sequences in the introns.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.meshChromosomes, human, pair 7en_HK
dc.subject.meshCystic fibrosis - geneticsen_HK
dc.subject.meshPolymerase chain reactionen_HK
dc.subject.meshMutationen_HK
dc.subject.meshAmino acid sequenceen_HK
dc.titleGenomic DNA sequence 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.natureabstracten_HK
dc.identifier.doi10.1016/0888-7543(91)90503-7en_HK
dc.identifier.pmid1710598en_HK
dc.identifier.scopuseid_2-s2.0-0025760318en_HK
dc.identifier.volume10en_HK
dc.identifier.issue1en_HK
dc.identifier.spage214en_HK
dc.identifier.epage228en_HK
dc.identifier.isiWOS:A1991FK40800028-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridRozmahel, R=6701510561en_HK
dc.identifier.scopusauthoridBozon, D=7003759305en_HK
dc.identifier.scopusauthoridKerem, BS=35376353800en_HK
dc.identifier.scopusauthoridGrzelczak, Z=6602366698en_HK
dc.identifier.scopusauthoridRiordan, JR=7202229758en_HK
dc.identifier.scopusauthoridRommens, J=7006884140en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats