Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families

Nat Genet. 1994 Mar;6(3):267-72. doi: 10.1038/ng0394-267.


Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant muscle disease thought to arise from an abnormal function of ion channels. Performing a genome-wide search using polymorphic dinucleotide repeats, we have localized the HypoPP locus in three families of different geographic origin to chromosome 1q31-32, by linkage analysis. Using an intragenic microsatellite, we also demonstrate that the gene encoding the muscle DHP-sensitive calcium channel alpha 1 subunit (CACNL1A3) maps to the same region, sharing a 5 centiMorgan (cM) interval with the HypoPP locus. Moreover, CACNL1A3 co-segregates with HypoPP without recombinants in the two informative families, and is therefore a good candidate for the HypoPP gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium Channels / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • DNA / genetics
  • Europe
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Hypokalemia / complications
  • Hypokalemia / genetics*
  • Male
  • Paralysis / complications
  • Paralysis / genetics*
  • Pedigree
  • Periodicity*
  • Repetitive Sequences, Nucleic Acid


  • Calcium Channels
  • Genetic Markers
  • DNA