Laboratoire de Physiologie, Faculté de Médecine de Monastir, Monastir, Tunisia.
Neurol Sci. 2010 Feb;31(1):53-6. doi: 10.1007/s10072-009-0190-z. Epub 2009 Dec 2.
Juvenile myoclonic epilepsy (JME) is a genetically determined common subtype of idiopathic generalized epilepsy. Linkage of JME to the chromosomal region 6p21.3 has been reported. An association has been previously observed between JME and the positional candidate, 6p21.3 linked, BRD2. Another candidate in this region is the TAP-1 gene encoding the Transporter Associated with Antigen Processing. The aim of the present study is to determine whether these two genes modulate the vulnerability to JME. While no difference was observed in the allele and genotype frequencies of BRD2 between JME and controls, an association was found between a TAP-1 haplotype and JME, suggesting that this gene may be another 6p21.3 linked vulnerability factor to JME.
青少年肌阵挛癫痫（JME）是一种遗传性的常见特发性全面性癫痫综合征。JME 与染色体 6p21.3 区域的连锁已被报道。先前曾观察到 JME 与位置候选基因、6p21.3 连锁的 BRD2 之间存在关联。该区域的另一个候选基因是编码抗原加工相关转运蛋白的 TAP-1 基因。本研究的目的是确定这两个基因是否调节 JME 的易感性。虽然在 JME 和对照组之间未观察到 BRD2 的等位基因和基因型频率存在差异，但发现 TAP-1 单倍型与 JME 之间存在关联，提示该基因可能是 JME 的另一个 6p21.3 连锁易感性因素。
