title: Absence of linkage to 8q23.3-q24.1 and 2p11.1-q12.2 in a new BAFME pedigree in China: indication of a third locus for BAFME.
abstract: Benign adult familial myoclonic epilepsy (BAFME) were mapped on chromosome 8q24 and 8q23.3-q24.1 in Japanese pedigrees and mapped on 2p11.1-2q12.2 in European pedigrees, respectively. Recently, we recruited a large BAFME pedigree in China. After genotyping 11 microsatellite markers covering the two previously identified chromosome regions, we performed linkage analyses. However, evidence of negative linkage was found in the two previously reported candidate regions (LOD score <-3.0 at no recombination). Our data suggest that the causative gene responsible for BAFME in the Chinese pedigree may be located on a new region other than 8q23.3-q24.1 and 2p11.1-q12.2, indicating the presence of a third locus for BAFME.
authors: Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan 410081, PR China.
authors: Fei-Yan
authors: FY
authors: Deng
authors: Jian
authors: J
authors: Gong
authors: Yun-Ci
authors: YC
authors: Zhang
authors: Kang
authors: K
authors: Wang
authors: Su-Mei
authors: SM
authors: Xiao
authors: Yuan-Neng
authors: YN
authors: Li
authors: Shu-Feng
authors: SF
authors: Lei
authors: Xiang-Ding
authors: XD
authors: Chen
authors: Bo
authors: B
authors: Xiao
authors: Hong-Wen
authors: HW
authors: Deng
mesh_terms: D000328:Adult; D002681:China / Q000453:epidemiology / Q000208:ethnology; D002874:Chromosome Mapping / Q000379:methods; D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D012189:Retrospective Studies