Hamel B C, Kremer H, Wesby-van Swaay E, van den Helm B, Smits A P, Oostra B A, Ropers H H, Mariman E C
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Am J Med Genet. 1996 Jul 12;64(1):131-3. doi: 10.1002/(SICI)1096-8628(19960712)64:1<131::AID-AJMG22>3.0.CO;2-N.
We report on a family in which nonsyndromal mild to moderate mental retardation segregates as an X-linked trait (MRX41). Two point linkage analysis demonstrated linkage between the disorder and marker DXS3 in Xq21.33 with a lod score of 2.56 at theta = 0.0 and marker DXS1108 in Xq28 with a lod score of 3.82 at theta = 0.0. Multipoint linkage analysis showed that the odds for a location of the gene in Xq28 vs Xq21.33 are 100:1. This is the fourth family with non-specific X-linked mental retardation with Xq28-qter as the most likely gene localization.
我们报告了一个家系,其中非综合征性轻度至中度智力障碍作为X连锁性状(MRX41)进行分离。两点连锁分析表明,该疾病与位于Xq21.33的标记DXS3连锁,在θ = 0.0时对数优势分数为2.56;与位于Xq28的标记DXS1108连锁,在θ = 0.0时对数优势分数为3.82。多点连锁分析显示,该基因位于Xq28与位于Xq21.33的概率比为100:1。这是第四个以Xq28 - qter为最可能基因定位的非特异性X连锁智力障碍家系。