Skip to main content

Advertisement

Log in

Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome

  • Original investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Author information

Authors and Affiliations

Authors

Additional information

Received: 4 November 1997 / Accepted: 5 January 1998

Rights and permissions

Reprints and permissions

About this article

Cite this article

Itoh, T., Tanaka, T., Nagai, R. et al. Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet 102, 435–439 (1998). https://doi.org/10.1007/s004390050717

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s004390050717

Keywords

Navigation