LOCALIZATION OF THE EPM1 GENE FOR PROGRESSIVE MYOCLONUS EPILEPSY ON CHROMOSOME-21 - LINKAGE DISEQUILIBRIUM ALLOWS HIGH-RESOLUTION MAPPING
LOCALIZATION OF THE EPM1 GENE FOR PROGRESSIVE MYOCLONUS EPILEPSY ON CHROMOSOME-21 - LINKAGE DISEQUILIBRIUM ALLOWS HIGH-RESOLUTION MAPPING
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DOI：
10.1093/hmg/2.8.1229
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发表时间：
1993-08-01
影响因子：
3.5
通讯作者：
DELACHAPELLE, A
中科院分区：
文献类型：
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作者：
LEHESJOKI, AE;KOSKINIEMI, M;DELACHAPELLE, A
Unverricht-Lundborg型进行性肌阵挛癫痫(EPM1)的基因已通过与染色体21q22.3上的标记连锁定位。通过分析具有来自该区域的新检测标记的多个疾病家系的交叉事件，我们能够将EPM1的定位缩小到D21S212和CD18基因座之间大约7 cM的间隔。为了进一步完善EPM1基因的定位，我们在38个芬兰家庭中应用了连锁不平衡作图，其中12个家庭有多个患病儿童，26个家庭只有一个患病儿童。根据已有的关于芬兰隔离种群结构和历史的知识，我们基于与几个标记基因座的强连锁不平衡估计了遗传距离，发现EPM1位于PFK1、D21S25和D21S154基因座的0.3 cM以内。由于这一遗传距离转化为300kb或更小的可能物理距离，这些数据为高度集中的克隆EPM1的尝试提供了基础。
The gene for Progressive Myoclonus epilepsy of Unverricht-Lundborg type (EPM1) has previously been mapped by linkage to markers on chromosome 21q22.3. By analyzing crossover events in multiplex disease families with newly detected markers from the region we were able to narrow the localization of EPM1 to an interval of approximately 7 cM, between loci D21S212 and CD18. To further refine the localization of the EPM1 gene we applied linkage disequilibrium mapping in 38 Finnish families, consisting of 12 with multiple affected children and 26 with a single affected child. Based on existing knowledge about the structure and history of the isolated Finnish population, we estimated genetic distances based on strong linkage disequilibrium to several marker loci and found that EPM1 resides within 0.3 cM or less of loci PFKL, D21S25 and D21S154. As this genetic distance translates into a likely physical distance of 300 kb or less, these data provide a basis for highly focused attempts to clone EPM1.