Cocco Eleonora, Mancosu Cristina, Fadda Elisabetta, Murru Maria Rita, Costa Gianna, Murru Raffaele, Marrosu Maria Giovanna
Department of Neuroscience, University of Cagliari, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis, 2, 09126 Cagliari, Italy.
J Neurol. 2002 Nov;249(11):1552-5. doi: 10.1007/s00415-002-0888-9.
A link between myelin basic protein (MBP) polymorphism and multiple sclerosis (MS) has been reported in some populations but not in others. We analysed two polymorphisms in the 5' flanking region of the MBP exon 1 gene in MS patients from the founder population of Sardinia. Using the transmission disequilibrium test (TDT), MBP polymorphisms were analysed in 363 singleton MS families. No distortion in transmission of the tetranucleotide repeat (ATGG)12 and of the 1116-1540 nt alleles was found. Moreover, we discovered no epistatic effect of the MBP gene on the HLA/MHC DRB1,DQB1, DPB1 loci or on alleles defined by D6S1683 marker found to be associated with MS in Sardinians. We concluded that the MBP gene does not play a role in MS susceptibility in Sardinians.
在一些人群中已报道髓鞘碱性蛋白（MBP）多态性与多发性硬化症（MS）之间存在关联，但在其他人群中未发现此关联。我们分析了来自撒丁岛奠基人群的MS患者中MBP外显子1基因5'侧翼区域的两种多态性。使用传递不平衡检验（TDT），对363个单病例MS家庭中的MBP多态性进行了分析。未发现四核苷酸重复序列（ATGG）12和1116 - 1540 nt等位基因传递存在扭曲。此外，我们未发现MBP基因对HLA/MHC DRB1、DQB1、DPB1基因座或对由D6S1683标记定义的等位基因存在上位效应，该标记在撒丁岛人群中被发现与MS相关。我们得出结论，MBP基因在撒丁岛人群的MS易感性中不起作用。
