| Autor: |
Plassart, Emmanuelle, Elbaz, Alexis, Santos, Jose, Reboul, Jocelyne, Lapie, Pascale, Chauveau, Dominique, Jurkat-Rott, Karin, Guimaraes, Joao, Saudubray, Jean-Marie, Weissenbach, Jean, Lehmann-Horn, Frank, Fontaine, Bertrand |
| Zdroj: |
Human Genetics; 1994, Vol. 94 Issue 5, p551-556, 6p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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