Lehesjoki A E, Tassinari C A, Avanzini G, Michelucci R, Franceschetti S, Antonelli A, Rubboli G, de la Chapelle A
Department of Medical Genetics, University of Helsinki, Finland.
Hum Genet. 1994 Jun;93(6):668-74. doi: 10.1007/BF00201568.
Seven phenotypically homogeneous Mediterranean myoclonus families were studied using DNA markers from the genetically defined EPM1 region on chromosome 21. No recombinations between the disease phenotype and the markers studied were detected. Within the EPM1 region, the highest lod score value of 5.07 (at theta = 0.00) was reached at locus PFKL. Significant allelic association (P = 0.02) between the disease mutation and PFKL was detected suggesting a founder effect in Mediterranean myoclonus. However, haplotype data using four marker loci residing within 300 kb of each other and of EPM1 suggest the occurrence of more than one mutation. The data are compatible with Mediterranean myoclonus being caused by mutations in the EPM1 gene and strengthen the concept that a large subset of progressive myoclonus epilepsies conforms with Unverricht-Lundborg disease and that this subset is an etiologically homogeneous entity.
利用位于21号染色体上经基因定位的EPM1区域的DNA标记，对7个表型一致的地中海肌阵挛家族进行了研究。未检测到疾病表型与所研究标记之间的重组。在EPM1区域内，在磷酸果糖激酶（PFKL）基因座处达到了最高连锁对数分值5.07（θ = 0.00）。检测到疾病突变与PFKL之间存在显著的等位基因关联（P = 0.02），提示地中海肌阵挛存在奠基者效应。然而，使用位于彼此相距300 kb且位于EPM1区域内的四个标记基因座的单倍型数据表明发生了不止一种突变。这些数据与地中海肌阵挛由EPM1基因突变引起相符，并强化了以下概念：相当一部分进行性肌阵挛癫痫符合昂韦里希特-伦德伯格病，且该亚组是病因学上的同质实体。
