Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families
B Fontaine, J Vale-Santos, K Jurkat-Rott, J Reboul… - Nature …, 1994 - nature.com
B Fontaine, J Vale-Santos, K Jurkat-Rott, J Reboul, E Plassart, CS Rime, A Elbaz, R Heine…
Nature genetics, 1994•nature.comHypokalaemic 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 α1 subunit (CACNL1A3) maps to the same region, sharing …
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 α1 subunit (CACNL1A3) maps to the same region, sharing …
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 α1 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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