Eraksoy M, Kurtuncu M, Akman-Demir G, Kilinc M, Gedizlioglu M, Mirza M, Anlar O, Kutlu C, Demirkiran M, Idrisoglu H A, Compston A, Sawcer S
Department of Neurology, Instanbul Faculty of Medicine, Capa, Istanbul, Turkey.
J Neuroimmunol. 2003 Oct;143(1-2):17-24. doi: 10.1016/j.jneuroim.2003.08.006.
Factors exerting recessive effects on susceptibility to complex traits are expected to be over-represented in communities having a higher frequency of consanguineous marriage. Multiple sclerosis, a typical complex trait, is relatively common in Turkey where cultural factors also determine a high rate of consanguineous marriage. Previous genetic studies of multiple sclerosis in Turkey have been confined to the search for associations with candidate genes. In order to exploit the special genetic features of the Turkish population, we performed a whole genome screen for linkage in 43 Turkish multiplex families employing 392 microsatellite markers. Two genomic regions where maximum lod score (MLS) values were suggestive of linkage were identified (chromosomes 13q and 18q23) along with a further 14 regions of potential linkage. Parametric analysis of these data using a recessive model, appropriate for populations with a high frequency of consanguinity, increased the LOD scores in four regions.
预计对复杂性状易感性产生隐性效应的因素在近亲结婚频率较高的群体中会过度出现。多发性硬化症是一种典型的复杂性状，在土耳其相对常见，该国的文化因素也导致近亲结婚率很高。此前在土耳其进行的多发性硬化症基因研究仅限于寻找与候选基因的关联。为了利用土耳其人群的特殊遗传特征，我们使用392个微卫星标记对43个土耳其多病例家庭进行了全基因组连锁筛查。确定了两个最大对数优势分数（MLS）值提示存在连锁的基因组区域（13号染色体和18号染色体q23）以及另外14个潜在连锁区域。使用适合近亲结婚频率高的人群的隐性模型对这些数据进行参数分析，提高了四个区域的LOD分数。
