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 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.
Fontaine
B
B
INSERM U134, Hôpital de la Salpêtrière, Paris, France.
Vale-Santos
J
J
Jurkat-Rott
K
K
Reboul
J
J
Plassart
E
E
Rime
C S
CS
Elbaz
A
A
Heine
R
R
Guimarães
J
J
Weissenbach
J
J
D015220:Calcium Channels / Q000235:genetics; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D004247:DNA / Q000235:genetics; D005060:Europe; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007008:Hypokalemia / Q000150:complications / Q000235:genetics*; D008297:Male; D010243:Paralysis / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010507:Periodicity; D012091:Repetitive Sequences, Nucleic Acid
D015220:Calcium Channels; D005819:Genetic Markers; D004247:DNA