Pakstis A J, Heutink P, Pauls D L, Kurlan R, van de Wetering B J, Leckman J F, Sandkuyl L A, Kidd J R, Breedveld G J, Castiglione C M
Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510.
Am J Hum Genet. 1991 Feb;48(2):281-94.
Gilles de la Tourette syndrome is a neuropsychiatric disorder with an autosomal dominant mode of inheritance and reduced penetrance at a single genetic locus. Several research groups have genetic linkage studies underway to detect the chromosomal location of the gene that predisposes for this disorder. Strong and clear evidence of linkage has not yet been produced for Tourette syndrome. This paper presents an overview of the methods and progress of the groups centered at Yale University and Erasmus University in excluding linkage from a large portion of the genome. Our labs have screened 228 genetic marker loci for linkage with a gene for this disorder in a series of affected families in the United States, Canada, The Netherlands, and Norway. More than 50% (and perhaps as much as 66%) of the autosomal genome has now been excluded on the assumption that genetic heterogeneity is not an important factor in the Tourette syndrome pedigrees pooled for this summary.
Gilles de la Tourette综合征是一种神经精神疾病,具有常染色体显性遗传模式,在单个基因位点的外显率降低。几个研究小组正在进行基因连锁研究,以检测导致这种疾病的基因在染色体上的位置。尚未有针对Tourette综合征的强有力且明确的连锁证据。本文概述了以耶鲁大学和伊拉斯姆斯大学为中心的研究小组在排除基因组大部分区域连锁方面的方法和进展。我们的实验室在美国、加拿大、荷兰和挪威的一系列患病家庭中,对228个遗传标记位点进行了与该疾病基因连锁的筛查。基于在本综述中汇总的Tourette综合征家系中遗传异质性不是重要因素这一假设,现已排除了超过50%(可能高达66%)的常染色体基因组。