Gelernter J, Pakstis A J, Pauls D L, Kurlan R, Gancher S T, Civelli O, Grandy D, Kidd K K
Department of Psychiatry, Yale University School of Medicine, New Haven, Conn 06510.
Arch Gen Psychiatry. 1990 Nov;47(11):1073-7. doi: 10.1001/archpsyc.1990.01810230089014.
Gilles de la Tourette syndrome has an important genetic component; the pathophysiology of this disorder may involve the dopamine system. We tested a D2-dopamine receptor (locus DRD2, recognized by probe hD2G1) for genetic linkage with Gilles de la Tourette syndrome. Using a genetic linkage map of the region of DRD2 on the long arm of chromosome 11 and restriction fragment length polymorphism data from a total of four markers (DRD2 itself, D11S84, D11S29, and PBGD), we were able to exclude linkage of this candidate gene and Gilles de la Tourette syndrome in two extended kindreds segregating for Gilles de la Tourette syndrome. This rules out causation of Gilles de la Tourette syndrome by mutation in DRD2 in the kindreds studied under the genetic assumptions we employed; use of the map and multipoint linkage analyses also allowed us to exclude a Gilles de la Tourette syndrome susceptibility locus from a larger genetic region.
抽动秽语综合征有重要的遗传成分；该疾病的病理生理学可能涉及多巴胺系统。我们检测了D2 - 多巴胺受体（由探针hD2G1识别的DRD2基因座）与抽动秽语综合征的遗传连锁关系。利用11号染色体长臂上DRD2区域的遗传连锁图谱以及来自总共四个标记（DRD2本身、D11S84、D11S29和PBGD）的限制性片段长度多态性数据，我们能够在两个分离抽动秽语综合征的扩展家系中排除该候选基因与抽动秽语综合征的连锁关系。这在我们采用的遗传假设下，排除了所研究家系中DRD2突变导致抽动秽语综合征的可能性；使用该图谱和多点连锁分析还使我们能够从更大的遗传区域排除抽动秽语综合征易感基因座。
