Linked Life Data

9600240

Source:http://linkedlifedata.com/resource/pubmed/id/9600240

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1998-6-10
pubmed:databankReference
http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009057, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009058, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009059, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009060, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009061, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009062, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009063, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009064, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009065, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009066, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009067, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009068, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009069, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009070, http://linkedlifedata.com/resource/pubmed/xref/GENBANK/AB009071
pubmed:abstractText
Familial long QT syndrome (LQTS) is characterized by prolonged ventricular repolarization. Clinical symptoms include recurrent syncopal attacks, and sudden death may occur as a result of ventricular tachyarrhythmias. Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far, and mutations have been reported on the basis of partially characterized genomic organization. To optimize the search for HERG mutations, we have determined the genomic structure of HERG and investigated mutations in LQTS families. Human genomic clones containing the HERG gene were isolated from a human genomic library by using reverse-transcribed polymerase chain reaction (RT-PCR) products from this gene as probes. We determined exon/intron boundaries and flanking intronic sequences by using primers synthesized on the basis of the HERG cDNA sequence available in the DNA database. HERG was shown to consist of 15 exons spanning approximately 19 kb on chromosome 7q35. Subsequently, we synthesized oligonucleotide primers to cover the entire coding region and searched for mutations in 36 Japanese LQTS families. When genomic DNA from each proband was examined by the PCR/single-strand conformation polymorphism technique followed by direct DNA sequencing, five novel mutations were detected. Each mutation was present in affected relatives of the respective proband. This work should increase the efficiency of screening mutations associated with HERG.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
102
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
435-9
pubmed:dateRevised
2008-10-28
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.
pubmed:affiliation
Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't