Vyshkina Tamara, Kalman Bernadette
Department of Neurology, Saint Luke's Roosevelt Hospital Center, Columbia University, 432W 58th Street, Room 226, New York, NY 10019, United States.
J Neuroimmunol. 2006 Jul;176(1-2):216-8. doi: 10.1016/j.jneuroim.2006.03.018. Epub 2006 May 19.
Our previous studies showed the association of multiple sclerosis with the same marker haplotype encompassing the CCL3 gene in two independent sets of families. Here we present that sequencing of this haplotype and its flanking regions detected no new mutation, but 16 single nucleotide polymorphisms (SNP) and 1 insertion/deletion variant in both affected and unaffected individuals. Transmission distortion analyses of the newly identified variants in the second set of families revealed no individual marker association. In the absence of a single disease relevant variant within the MS associated haplotype and the surrounding linkage disequilibrium block, the highlighted haplotype may itself indicate a functionally relevant allelic combination or interaction.
我们之前的研究表明，在两组独立的家族中，多发性硬化症与包含CCL3基因的相同标记单倍型存在关联。在此我们报告，对该单倍型及其侧翼区域进行测序未发现新的突变，但在患病个体和未患病个体中均检测到16个单核苷酸多态性（SNP）和1个插入/缺失变异。对第二组家族中新鉴定的变异进行传递不平衡分析，未发现单个标记存在关联。由于在与MS相关的单倍型及周围连锁不平衡区域内不存在单一的疾病相关变异，突出显示的单倍型本身可能表明一种功能相关的等位基因组合或相互作用。
