Comings D E, Comings B G, Knell E
Department of Medical Genetics, City of Hope National Medical Center, Duarte, California 91010.
Am J Med Genet. 1989 Nov;34(3):413-21. doi: 10.1002/ajmg.1320340318.
We review evidence suggesting that many individuals with Tourette syndrome (TS) may be homozygous for a "Tourette syndrome" gene. This is based on experience with pedigrees on 1,200 TS families, comparison of the occurrence of tics or associated behaviors such as obsessive-compulsive behavior, panic attacks, attention deficit hyperactivity disorder, and/or severe alcohol or drug abuse, on both the maternal and paternal side in 170 TS families compared to control families, biochemical studies of blood serotonin and tryptophan levels, and other evidence. These observations suggest the inheritance in TS may be best described as semi-dominant, semi-recessive. Some of the implications of this proposal are discussed.
我们回顾了相关证据，这些证据表明许多患有妥瑞氏症（TS）的个体可能对于一个“妥瑞氏症”基因是纯合子。这是基于对1200个妥瑞氏症家庭谱系的研究经验，在170个妥瑞氏症家庭中，将母系和父系中抽动秽语综合征或相关行为（如强迫行为、惊恐发作、注意力缺陷多动障碍和/或严重酒精或药物滥用）的发生率与对照家庭进行比较，对血液中血清素和色氨酸水平进行生化研究，以及其他证据。这些观察结果表明，妥瑞氏症的遗传方式可能最好描述为半显性、半隐性。本文讨论了这一观点的一些影响。
