Abstract：
: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.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Walkup JT,LaBuda MC,Singer HS,Brown J,Riddle MA,Hurko Osubject
Has Abstractpub_date
1996-09-01 00:00:00pages
684-93issue
3eissn
0002-9297issn
1537-6605journal_volume
59pub_type
杂志文章abstract：:Genome-wide association studies (GWASs) are commonly used for the mapping of genetic loci that influence complex traits. A problem that is often encountered in both population-based and family-based GWASs is that of identifying cryptic relatedness and population stratification because it is well known that failure to ...
journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2012-07-13 00:00:00
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journal_title：American journal of human genetics
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2003-11-01 00:00:00
abstract：:Data from the Research Roster for Huntington Disease Patients and Families were used to assess the hypothesis that juvenile onset in Huntington disease is determined by an X-linked recessive modifying gene in the affected parent. The observed proportion of affected fathers to affected mothers who had such offspring w...
journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：1992-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2018-07-05 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2000-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章,多中心研究
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更新日期：2008-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/420772
更新日期：2004-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1983-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302588
更新日期：1999-10-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/513895
更新日期：1997-07-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/367714
更新日期：2003-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2007.09.011
更新日期：2008-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/375695
更新日期：2003-06-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/339520
更新日期：2002-04-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2011.10.002
更新日期：2011-11-11 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/383591
更新日期：2004-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2003-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1990-07-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1990-09-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2003-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2000-10-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1983-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2007-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1987-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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更新日期：2008-09-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章,评审
doi：
更新日期：1994-07-01 00:00:00
