Channelpedia

PubMed 8012389


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav1.1



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

Authors: B Fontaine, J Vale-Santos, K Jurkat-Rott, J Reboul, E Plassart, C S Rime, A Elbaz, R Heine, J Guimarães, J Weissenbach

Journal, date & volume: Nat. Genet., 1994 Mar , 6, 267-72

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/8012389


Abstract
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.