Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3.
Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3.
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DOI：
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发表时间：
1996-11
影响因子：
9.8
通讯作者：
Leslie;Boghosian-Sell;D. Comings;J. Overhauser
中科院分区：
文献类型：
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作者：
Leslie;Boghosian-Sell;D. Comings;J. Overhauser
多发性抽动症是一种神经精神障碍，以多发性、不自主的运动和发声抽搐为特征。相关的病理包括注意力缺陷障碍和强迫症(OCD)。基于常染色体显性遗传传递方式和外显性降低的广泛连锁分析未能显示与多态标记的连锁，这表明Tourette综合征要么是基因异质性，要么是多基因起源。一名被诊断为多发性抽动症的患者被描述为携带结构性(7；18)染色体易位(Comments等人)。1986)。其他携带易位的家庭成员表现出抽动症的特征，包括运动痉挛、声带痉挛和强迫症。由于染色体重排导致的特定基因的破坏可以引起特定的表型，我们已经对7；18易位进行了物理定位，以便可以识别和评估断裂点上的基因定位是否可能与多发性抽动症有关。使用保留DER(7)或DER(18)的体细胞杂交种，已经确定了7号和18号染色体上断裂点的更精确的定位。此外，物理作图已经确定了两个YAC克隆，它们跨越FISH确定的18号染色体上的易位断裂点。这些YAC克隆将有助于最终识别在易位部位定位到7号和18号染色体的基因。
Tourette syndrome is a neuropsychiatric disorder characterized by the presence of multiple, involuntary motor and vocal tics. Associated pathologies include attention deficit disorder and obsessive-compulsive disorder (OCD). Extensive linkage analysis based on an autosomal dominant mode of transmission with reduced penetrance has failed to show linkage with polymorphic markers, suggesting either locus heterogeneity or a polygenic origin for Tourette syndrome. An individual diagnosed with Tourette syndrome has been described carrying a constitutional (7;18) chromosome translocation (Comings et al. 1986). Other family members carrying the translocation exhibit features seen in Tourette syndrome including motor tics, vocal tics, and OCD. Since the disruption of specific genes by a chromosomal rearrangement can elicit a particular phenotype, we have undertaken the physical mapping of the 7;18 translocation such that genes mapping at the site of the breakpoint can be identified and evaluated for a possible involvement in Tourette syndrome. Using somatic cell hybrids retaining either the der(7) or the der(18), a more precise localization of the breakpoints on chromosomes 7 and 18 have been determined. Furthermore, physical mapping has identified two YAC clones that span the translocation breakpoint on chromosome 18 as determined by FISH. These YAC clones will be useful for the eventual identification of genes that map to chromosomes 7 and 18 at the site of the translocation.