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

作者：Deng, FY; Gong, J; Zhang, YC; Wang, K; Xiao, SM; Li, YN; Lei, SF; Chen, XD; Bo, XA; Deng, HW^*

来源：Epilepsy Research, 2005, 65(3): 147-152.

DOI：10.1016/j.eplepsyres.2005.05.006

• benign adult familial myoclonic epilepsy (BAFME)
• linkage analysis
• genetic heterogeneity

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.

• 出版日期2005-7
• 单位中南大学; 湖南师范大学