Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)

Hum Genet. 1994 Nov;94(5):551-6. doi: 10.1007/BF00211025.

Abstract

Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases known to involve an abnormal function of ion channels. The latter includes hypokalemic and hyperkalemic periodic paralyses, and non-dystrophic myotonias. We recently showed genetic linkage of hypoPP to loci on chromosome 1q31-32, co-localized with the DHP-sensitive calcium channel CACNL1A3. We propose to term this locus hypoPP-1. Using extended haplotypes with new markers located on chromosome 1q31-32, we now report the detailed mapping of hypoPP-1 within a 7 cM interval. Two recombinants between hypoPP-1 and the flanking markers D1S413 and D1S510 should help to reduce further the hypoPP-1 interval. We used this new information to demonstrate that a large family of French origin displaying hypoPP is not genetically linked to hypoPP-1. We excluded genetic linkage over the entire hypoPP-1 interval showing for the first time genetic heterogeneity in hypoPP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 1*
  • Female
  • Genetic Heterogeneity*
  • Genetic Linkage / genetics
  • Haplotypes
  • Humans
  • Hypokalemia / genetics
  • Male
  • Paralyses, Familial Periodic / genetics*
  • Pedigree
  • Recombination, Genetic