在中国一个新的BAFME家系中未发现与8q23.3 - q24.1和2p11.1 - q12.2的连锁关系：提示BAFME存在第三个基因座。
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.
作者信息
Deng Fei-Yan, Gong Jian, Zhang Yun-Ci, Wang Kang, Xiao Su-Mei, Li Yuan-Neng, Lei Shu-Feng, Chen Xiang-Ding, Xiao Bo, Deng Hong-Wen
机构信息
Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan 410081, PR China.
出版信息
Epilepsy Res. 2005 Jul;65(3):147-52. doi: 10.1016/j.eplepsyres.2005.05.006.
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.
良性成人家族性肌阵挛性癫痫（BAFME）在日本家系中被定位到8号染色体的q24以及8q23.3 - q24.1区域，而在欧洲家系中分别被定位到2p11.1 - 2q12.2区域。最近，我们在中国招募了一个大型BAFME家系。在对覆盖先前确定的两个染色体区域的11个微卫星标记进行基因分型后，我们进行了连锁分析。然而，在先前报道的两个候选区域中发现了负连锁证据（在无重组情况下，LOD分数 < -3.0）。我们的数据表明，中国家系中导致BAFME的致病基因可能位于8q23.3 - q24.1和2p11.1 - q12.2以外的新区域，这表明存在BAFME的第三个基因座。
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