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.
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.
Deng
Fei-Yan
FY
Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan 410081, PR China.
Gong
Jian
J
Zhang
Yun-Ci
YC
Wang
Kang
K
Xiao
Su-Mei
SM
Li
Yuan-Neng
YN
Lei
Shu-Feng
SF
Chen
Xiang-Ding
XD
Xiao
Bo
B
Deng
Hong-Wen
HW
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