title: A Chinese benign adult familial myoclonic epilepsy pedigree suggesting linkage to chromosome 5p15.31-p15.1.
abstract: Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q23.3-q24.1, 2p11.1-q12.1, 5p15.31-p15.1, and 3q26.32-3q28, in Japanese, Italian, Thai, and French pedigrees, respectively. Recently, we investigated a Chinese BAFME family. Clinical and electrophysiological studies revealed that nine individuals were affected with BAFME. We aimed to establish the causative gene for this pedigree. We genotyped 17 microsatellite markers covering the four previously identified chromosome regions and performed linkage analyses. The linkage analysis data showed that the LOD score was 2.80 for D5S486 at no recombination. This suggested linkage to 5p15.31-p15.1 and excluded linkage to the other three loci (LOD score <0 at no recombination). Our study suggests that the causative gene responsible for BAFME in the Chinese pedigree may be located on chromosome 5p15.31-p15.1.
authors.affiliation: Department of Neurology, the Second Hospital of Jilin University, 218 Ziqiang Road, Changchun, 130041, Jinlin, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Li
authors.forename: Xinyu
authors.initials: X
authors.lastname: Hu
authors.forename: Qiuhui
authors.initials: Q
authors.lastname: Chen
authors.forename: Yizhi
authors.initials: Y
authors.lastname: Zhang
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhang
authors.forename: Guohua
authors.initials: G
authors.lastname: Hu
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000503:physiopathology; D005073:Evoked Potentials, Somatosensory; D005260:Female; D008040:Genetic Linkage; D056426:Genetic Loci / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree