Significant linkage for Tourette syndrome in a large French Canadian family
Significant linkage for Tourette syndrome in a large French Canadian family
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DOI：
10.1086/303093
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发表时间：
2000-10-01
影响因子：
9.8
通讯作者：
Caron, C
中科院分区：
文献类型：
--
作者：
Mérette, C;Brassard, A;Caron, C
家族和双胞胎研究提供了强有力的证据表明，遗传因素参与了抽动秽语综合征（TS）和相关精神疾病的传播。为了检测TS的潜在易感基因，我们在Charlevoix地区的一个法裔加拿大大家庭（127名成员）中进行了连锁分析，其中20名家庭成员明确受到TS的影响，另外20名显示相关的抽动障碍。使用基于模型的连锁分析，我们观察到的LOD得分为3.24对染色体11（11q23）。这一结果是在一个多点的方法，涉及标记D11S1377，标记，其中显着的连锁不平衡TS最近已被检测到在南非白人人口。总共，25个标记进行了研究，并为显着性水平，我们得出了一个标准，考虑到多重测试所产生的使用三个表型的定义和三种模式的遗传，一个程序，产生了LOD得分为3.18。因此，即使经过多次测试调整后，本研究显示与TS遗传连锁的统计学显著证据。
Family and twin studies provide strong evidence that genetic factors are involved in the transmission of Gilles de la Tourette syndrome (TS) and related psychiatric disorders. To detect the underlying susceptibility gene(s) for TS, we performed linkage analysis in one large French Canadian family (127 members) from the Charlevoix region, in which 20 family members were definitely affected by TS and 20 others showed related tic disorders. Using model-based linkage analysis, we observed a LOD score of 3.24 on chromosome 11 (11q23). This result was obtained in a multipoint approach involving marker D11S1377, the marker for which significant linkage disequilibrium with TS recently has been detected in an Afrikaner population. Altogether, 25 markers were studied, and, for level of significance, we derived a criterion that took into account the multiple testing arising from the use of three phenotype definitions and three modes of inheritance, a procedure that yielded a LOD score of 3.18. Hence, even after adjustment for multiple testing, the present study shows statistically significant evidence for genetic linkage with TS.