Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

Am J Hum Genet. 1992 May;50(5):896-901.


Two polymorphic dinucleotide repeats--one (dGdA)n and one (dGdT)n--have been identified at the SCN4A locus, encoding the alpha-subunit of the adult skeletal muscle sodium channel. When typed using PCR, the dinucleotide repeats display 4 and 10 alleles, respectively, with a predicted heterozygosity of .81 for the combined haplotype. We have applied these polymorphisms to the investigation of hyperkalemic periodic paralysis and paramyotonia congenita, distinct neuromuscular disorders both of which are thought to involve mutation at SCN4A. Our data confirm the genetic linkage of both disorders with SCN4A. Haplotype analysis also indicates the strong likelihood of allelic heterogeneity in both disorders.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles*
  • Base Sequence
  • Genetic Linkage / genetics
  • Haplotypes
  • Humans
  • Hyperkalemia / genetics
  • Molecular Sequence Data
  • Mutation / genetics
  • Myotonia Congenita / genetics*
  • Paralyses, Familial Periodic / genetics*
  • Pedigree
  • Polymorphism, Genetic / genetics
  • Repetitive Sequences, Nucleic Acid*
  • Sodium Channels / genetics*


  • Sodium Channels

Associated data

  • GENBANK/M85045
  • GENBANK/M85046
  • GENBANK/S37423
  • GENBANK/S90825