Segregation and linkage analyses of Tourette's syndrome and related disorders.
Segregation and linkage analyses of Tourette's syndrome and related disorders.
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DOI：
10.1097/00004583-199003000-00007
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发表时间：
1990-03
影响因子：
13.3
通讯作者：
D. Pauls;A. Pakstis;R. Kurlan;K. Kidd;J. Leckman;D. Cohen;J. Kidd;P. Como;R. Sparkes
中科院分区：
文献类型：
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作者：
D. Pauls;A. Pakstis;R. Kurlan;K. Kidd;J. Leckman;D. Cohen;J. Kidd;P. Como;R. Sparkes
分离和连锁分析进行了数据从一个大的抽动秽语综合征（TS）多代亲属。分离分析的结果非常相似的一些早期报道，并建议传播方式是符合常染色体显性遗传。使用三种诊断方案进行分析，以指定受影响的家庭成员（仅TS; TS或慢性抽搐[CT];以及TS，CT或强迫症[OCD]）。在包括TS、CT和OCD患者亲属的分析中，AA、Aa和aa（A为易感等位基因）基因型的遗传频率估计值在男性中分别为0.99、0.99和0.00，在女性中分别为0.70、0.70和0.00。140个标记位点的成对连锁分析未能确定连锁标记。然而，大约30%的基因组被排除作为TS的假设基因座的位点。
Segregation and linkage analyses were performed with data from a large Tourette's syndrome (TS) multigenerational kindred. Results of segregation analyses were remarkably similar to some reported earlier and suggest that the mode of transmission is consistent with autosomal dominant inheritance. The analyses were done using three diagnostic schemes to specify affected family members (TS only; TS or chronic tics [CT]; and TS, CT or obsessive compulsive disorder [OCD]). The estimates of penetrance for the genotypes AA, Aa and aa (A denotes the susceptibility allele) in the analyses including relatives with TS, CT or OCD were 0.99, 0.99 and 0.00, respectively, for males and 0.70, 0.70 and 0.00 for females. Pairwise linkage analyses with 140 marker loci failed to identify a linked marker. However, approximately 30 percent of the genome was excluded as the site of the hypothesized locus for TS.