title: Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.
abstract: Juvenile myoclonic epilepsy is a common subtype of idiopathic epilepsy accounting for 4-11% of all epilepsies. We reported previously significant evidence of linkage between chromosome 6p12-11 microsatellites and the clinical epilepsy and EEG traits of JME families from Belize and Los Angeles. To narrow the JME region, we ascertained and genotyped 31 new JME families from Mexico using a later generation of Généthon microsatellites. Two point linkage analyses obtained significant Z(max) values of 3.70 for D6S1573 and 2.65 for D6S1714 at theta(m = f) = 0.10, and 3.49 for D6S465, 2.11 for D6S1960 at theta(m = f) = 0.05 assuming autosomal dominant inheritance with 70% age-dependent penetrance. Multipoint LOD score curve peaked at 4.21 for D6S1573. Haplotype and recombination analysis reduced the JME region to 3.5 cM flanked by D6S272 and D6S1573. These results provide confirmatory evidence that a major susceptibility gene for JME exists in chromosome 6p12 in Spanish-Amerinds of Mexico.
authors.affiliation: Epilepsy Genetics/Genomics Lab, Comprehensive Epilepsy Program/UCLA, Los Angeles, California, USA.
authors.forename: Dongsheng
authors.initials: D
authors.lastname: Bai
authors.forename: Maria E
authors.initials: ME
authors.lastname: Alonso
authors.forename: Marco T
authors.initials: MT
authors.lastname: Medina
authors.forename: Julia N
authors.initials: JN
authors.lastname: Bailey
authors.forename: Ryoji
authors.initials: R
authors.lastname: Morita
authors.forename: Sergio
authors.initials: S
authors.lastname: Cordova
authors.forename: Astrid
authors.initials: A
authors.lastname: Rasmussen
authors.forename: Jaime
authors.initials: J
authors.lastname: Ramos-Peek
authors.forename: Adriana
authors.initials: A
authors.lastname: Ochoa
authors.forename: Aurelio
authors.initials: A
authors.lastname: Jara
authors.forename: Francisco R
authors.initials: FR
authors.lastname: Donnadieu
authors.forename: Gilbert
authors.initials: G
authors.lastname: Cadena
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Yamakawa
authors.forename: Antonio V
authors.initials: AV
authors.lastname: Delgado-Escueta
mesh_terms: D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D008800:Mexico; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics*; D010375:Pedigree
chemical_list: D005819:Genetic Markers