Genetic variations in five genes involved in the excitement of cardiomyocytes

J Hum Genet. 2001;46(9):549-52. doi: 10.1007/s100380170039.

Abstract

We provide here 29 genetic variations, including 28 novel ones, in five genes that are potentially involved in the excitement of cardiomyocytes: we found 4 in KCNA10, 2 in KCNK1, 8 in KCNK6, 11 in SLC18A1 (VMAT1), and 4 in SLC6A2 (norepinephrine transporter). We also examined their allelic frequencies in a Japanese population of long QT syndrome-affected and nonaffected individuals. These data would be useful for genetic association studies designed to investigate acquired arrhythmias.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • DNA Primers
  • Genetic Variation*
  • Heart / physiology*
  • Humans
  • Introns
  • Long QT Syndrome / genetics*
  • Membrane Glycoproteins / genetics
  • Membrane Transport Proteins*
  • Mutation*
  • Myocardium / cytology
  • Neuropeptides*
  • Norepinephrine Plasma Membrane Transport Proteins
  • Polymerase Chain Reaction
  • Potassium Channels / genetics*
  • Potassium Channels, Tandem Pore Domain*
  • Symporters / genetics
  • Vesicular Biogenic Amine Transport Proteins
  • Vesicular Monoamine Transport Proteins

Substances

  • DNA Primers
  • KCNK1 protein, human
  • KCNK6 protein, human
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Neuropeptides
  • Norepinephrine Plasma Membrane Transport Proteins
  • Potassium Channels
  • Potassium Channels, Tandem Pore Domain
  • SLC18A1 protein, human
  • SLC6A2 protein, human
  • Symporters
  • Vesicular Biogenic Amine Transport Proteins
  • Vesicular Monoamine Transport Proteins