进行性肌阵挛性癫痫1型（EPM1）基因座定位于21号染色体长臂远端的一个175 kb区间。
Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.
作者信息
Virtaneva K, Miao J, Träskelin A L, Stone N, Warrington J A, Weissenbach J, Myers R M, Cox D R, Sistonen P, de la Chapelle A
机构信息
Department of Medical Genetics, University of Helsinki, Finland.
出版信息
Am J Hum Genet. 1996 Jun;58(6):1247-53.
Abstract
The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has been hampered by the lack of physical and genetic mapping resolution. We here report the use of a recently constituted contig of cosmid, BAC, and P1 clones that allowed new polymorphic markers to be positioned. These were typed in 53 unrelated disease families from an isolated Finnish population in which a putative single ancestral EPM1 mutation has segregated for an estimated 100 generations. By thus exploiting historical recombinations in haplotype analysis, EPM1 could be assigned to the approximately 175-kb interval between the markers D21S2040 and D21S1259.
摘要
导致昂韦里希特-伦德伯格型进行性肌阵挛癫痫（MIM 254800）的EPM1基因座定位于21号染色体长臂远端的一个区域，由于缺乏物理和遗传图谱分辨率，该区域的定位克隆受到阻碍。我们在此报告使用了最近构建的黏粒、细菌人工染色体（BAC）和P1克隆重叠群，从而能够定位新的多态性标记。在一个隔离的芬兰人群中的53个无亲缘关系的疾病家族中对这些标记进行了分型，在该人群中一个推定的单一祖先EPM1突变已经分离了大约100代。通过在单倍型分析中利用历史重组，EPM1可以被定位到标记D21S2040和D21S1259之间大约175kb的区间内。
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