Ronce N, Raynaud M, Toutain A, Moizard M P, Colleaux L, Gendrot C, Briault S, Moraine C
Unité de Génétique, Hôpital Bretonneau, Tours, France.
Am J Med Genet. 1999 Mar 12;83(2):132-7. doi: 10.1002/(sici)1096-8628(19990312)83:2<132::aid-ajmg9>3.0.co;2-y.
Linkage analysis was performed in three generations of a French family segregating a syndromal form of X-linked mental retardation. All affected males had neonatal hypotonia, seizures, muscular hypodevelopment, and severe mental deficiency. A peak lod score of 2.90 at a recombination fraction of theta = 0 was detected for DXS 1052 and DXS 451 (Xp22.13). Recombination between the disease locus and the polymorphic markers in DXS7163 and DXS1238 suggested a gene mapping to the Xp22.13-Xp21.2 region. Three candidate genes in this region were investigated: the cDNA for kinase Rsk-2 involved in Coffin-Lowry syndrome, the brain-specific exon of a transcript in the DMD locus (DP140 isoform of dystrophin), and exon 18 of the glycerol kinase gene, which is specific to fetal brain transcripts. All three sequences were normal.
对一个患有X连锁智力障碍综合征的法国家庭的三代成员进行了连锁分析。所有受影响的男性都有新生儿肌张力减退、癫痫发作、肌肉发育不全和严重智力缺陷。在DXS 1052和DXS 451（Xp22.13）处，重组率θ = 0时检测到最高对数优势分数为2.90。疾病基因座与DXS7163和DXS1238中的多态性标记之间的重组表明一个基因定位于Xp22.13-Xp21.2区域。对该区域的三个候选基因进行了研究：参与科芬-洛里综合征的激酶Rsk-2的cDNA、DMD基因座转录本的脑特异性外显子（肌营养不良蛋白的DP140亚型）以及甘油激酶基因的第18外显子，其是胎儿脑转录本所特有的。所有这三个序列均正常。
