Lafrenière R G, de Jong P J, Rouleau G A
Centre for Research in Neuroscience, McGill University, Montreal, Quebec, Canada.
Genomics. 1995 Sep 1;29(1):288-90. doi: 10.1006/geno.1995.1248.
As a step toward identifying the molecular defect in patients afflicted with progressive myoclonus epilepsy type 1 (EPM1), we have assembled a cosmid contig of the candidate EPM1 region in 21q22.3. The contig constitutes a collection of 87 different cosmids spanning 405 kb based on a derived HindIII restriction map. Potential CpG-rich islands have been identified based on the restriction map generated from eight different rare-cutting enzymes. This contig contains the genetic material required for the isolation of expressed sequences and the identification of the gene defective in EPM1 and possibly other disorders mapping to this region.
作为确定1型进行性肌阵挛癫痫（EPM1）患者分子缺陷的第一步，我们构建了21q22.3区域候选EPM1区的黏粒重叠群。根据推导的HindIII限制性酶切图谱，该重叠群由87个不同的黏粒组成，跨度为405 kb。基于由八种不同的稀有切割酶生成的限制性酶切图谱，已鉴定出潜在的富含CpG的岛。该重叠群包含分离表达序列以及鉴定EPM1中缺陷基因和可能定位于该区域的其他疾病所需的遗传物质。
