Claes S, Vogels A, Holvoet M, Devriendt K, Raeymaekers P, Cassiman J J, Fryns J P
Center for Human Genetics, University of Leuven, Belgium.
Am J Med Genet. 1997 Dec 31;73(4):474-9.
Two families with nonspecific X-linked mental retardation (XLMR) are presented. In the first family, MRX49, 5 male patients in 2 generations showed mild to moderate mental retardation. Two-point linkage analysis with 28 polymorphic markers, dispersed over the X-chromosome, yielded a maximal LOD score of 2.107 with markers DXS7107 and DXS8051 at theta = 0.0, localizing the MRX49 gene at Xp22.3-p22.2, between Xpter and marker DXS8022. Multipoint linkage analysis showed negative LOD values over all other regions of the chromosome. In the second family, MRX50, 4 males in 2 generations showed moderate mental retardation. Pairwise linkage analysis with 28 polymorphic markers yielded a LOD score of 2.056 with markers DXS8054, DXS1055, and DXS1204, all at theta = 0.0. Flanking markers were DXS8012 and DXS991, situating the MRX50 gene at Xp11.3-Xp11.21, in the pericentromeric part of the short arm of the X chromosome.
本文介绍了两个患有非特异性X连锁智力障碍（XLMR）的家系。在第一个家系MRX49中，两代中的5名男性患者表现出轻度至中度智力障碍。使用分布在X染色体上的28个多态性标记进行两点连锁分析，在θ = 0.0时，标记DXS7107和DXS8051产生的最大LOD分数为2.107，将MRX49基因定位在Xp22.3 - p22.2，位于Xpter和标记DXS8022之间。多点连锁分析显示染色体所有其他区域的LOD值均为阴性。在第二个家系MRX50中，两代中的4名男性表现出中度智力障碍。使用28个多态性标记进行成对连锁分析，标记DXS8054、DXS1055和DXS1204在θ = 0.0时产生的LOD分数为2.056。侧翼标记为DXS8012和DXS991，将MRX50基因定位在X染色体短臂的着丝粒周围部分，即Xp11.3 - Xp11.21。
