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

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 1 subunit (CACNL1A3) maps to the same region, sharing a 5 centiMorgan (cM) interval with the HypoPP locus. Moreover, CACNL1A3 co−segregrates with HypoPP without recombinants in the two informative families, and is therefore a good candidate for the HypoPP gene.

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