Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance.
Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance.
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发表时间：
1996-08
影响因子：
9.8
通讯作者：
J. Walkup;M. Labuda;H. Singer;Janice Brown;M. Riddle;O. Hurko
中科院分区：
文献类型：
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作者：
J. Walkup;M. Labuda;H. Singer;Janice Brown;M. Riddle;O. Hurko
为探讨抽动秽语综合征（TS）及其相关疾病在家庭中的传播，对53例独立确诊的TS儿童和青少年及其154名一级亲属的家庭研究资料进行了复杂分离分析。结果表明，TS的易感性是由一个主要位点结合多因素的背景。其他遗传模型被明确拒绝，包括严格的多基因模型，所有的单主基因模型，以及显性和隐性主基因座的混合模型。TS易感等位基因的频率估计为0.01。主基因座占TS表型方差的一半以上，而多因子背景占表型方差的约40%。外显率估计表明，所有个体的易感性等位基因在主要基因座的纯合子受到影响，而只有2.2%的男性和0.3%的女性杂合子的主要基因座受到影响。受TS影响的个体中，约62%为杂合子，约38%为主要基因座的纯合子。虽然没有一个家庭的父母都患有TS，但19%的家庭的父母都患有更广泛的表型，包括TS，慢性抽动障碍或强迫症。
To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was performed on family study data obtained from 53 independently ascertained children and adolescents with TS and their 154 first-degree relatives. The results suggest that the susceptibility for TS is conveyed by a major locus in combination with a multifactorial background. Other models of inheritance were definitively rejected, including strictly polygenic models, all single major locus models, and mixed models with dominant and recessive major loci. The frequency of the TS susceptibility allele was estimated to be .01. The major locus accounts for over half of the phenotypic variance for TS, whereas the multifactorial background accounts for approximately 40% of phenotypic variance. Penetrance estimates suggest that all individuals homozygous for the susceptibility allele at the major locus are affected, whereas only 2.2% of males and 0.3% of females heterozygous at the major locus are affected. Of individuals affected with TS, approximately 62% are heterozygous and approximately 38% are homozygous at the major locus. While none of the families had two parents affected with TS, 19% of families had two parents affected with the broader, phenotype, which includes TS, chronic tic disorder, or obsessive-compulsive disorder.