MOLECULAR GENETICS OF AUTISM
自闭症的分子遗传学
基本信息
- 批准号:6505592
- 负责人:
- 金额:$ 17.24万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2001
- 资助国家:美国
- 起止时间:2001-06-01 至 2002-09-19
- 项目状态:已结题
- 来源:
- 关键词:Asperger syndrome autism child behavior disorders child mental disorders family genetics fragile X syndromes genetic disorder diagnosis genetic markers genetic polymorphism genotype human genetic material tag human subject human tissue linkage disequilibriums molecular genetics molecular pathology neurobiology polymerase chain reaction
项目摘要
Autism is a severe developmental disorder afflicting about 2-10 per 10,000
individuals. While twin and family studies support significant gene
involvement, the specific mode of genetic inheritance is unknown and
multiplicative gene action, genetic heterogeneity, and variable expression
of underlying susceptibility genes are probable. Given the unknown and
complex mode of genetic inheritance in autism, success in localizing
underlying disease genes in autism will require evaluation of hundreds of
genetic markers spanning the genome and large sample sizes to obtain
sufficient power to find underlying genes. In addition, candidate gene
studies based on function or position are complementary strategies in a
comprehensive approach to understanding the molecular genetic basis of
autism.
The goals of this project are to localize disease genes in autism through
a systematic genome search and candidate gene analysis. In a multi-site
international collaborative effort, 240 families with affected sibling
pairs with autism will be collected and genotyped on highly polymorphic
markers spanning the human genome at regular, close intervals. The U.S.
collaborative group will identify and phenotype 120 families with affected
siblings with autism and send blood from the families to U.K. for
transformation of cell lines. The U.K.-European group of collaborators,
through their own funding resources, will collect an additional set of 120
relative pairs and genotyping efforts will be conducted in an independent
laboratory facility. Through this international effort susceptibility
genes can be identified in approximately 240 pairs. In addition candidate
genes will be studied using the transmission/disequilibrium test for
serotonergic. dopaminergic. GABAergic and associated disease candidates
(tuberculous sclerosis). Linkage disequilibrium studies, conducted in 350
families with only one child with autism and 80 families with a child with
Asperger's disorder will allow determination of whether there arc
different susceptibility genes involved in simplex autism, multiplex
autism, or Asperger's disorder. Once susceptibility genes for autism are
identified, their role in the clinical variability in autism and in the
expression of putative milder variants in autism, including social
functioning deficits, mood, and anxiety disorders may be identified. In
addition, identification of the genetic determinants in autism would lay
the groundwork for development of improved treatment interventions
targeting the pathophysiology of autism.
自闭症是一种严重的发育障碍,每10,000人中约有2-10人患有自闭症。
个体虽然双胞胎和家庭研究支持重要的基因,
参与,基因遗传的具体模式是未知的,
倍增基因作用、遗传异质性和可变表达
潜在的易感基因是可能的。鉴于未知和
自闭症遗传的复杂模式,成功定位
自闭症的潜在疾病基因将需要评估数百个
跨越基因组的遗传标记和大样本量,以获得
有足够的能力找到潜在的基因。此外,候选基因
基于职能或职位的研究是一种补充战略,
全面的方法来理解的分子遗传基础,
自闭症
该项目的目标是通过以下方法定位自闭症的疾病基因:
系统的基因组搜索和候选基因分析。在多站点中
国际合作努力,240个兄弟姐妹受影响的家庭
将收集自闭症患者对,并在高度多态性的
这些标记以规律的紧密间隔跨越人类基因组。美国
合作小组将确定和表型120个家庭与受影响的
患有自闭症的兄弟姐妹,并将血液从家庭送到英国。为
细胞系的转化。英国-欧洲合作者团体,
通过他们自己的资金来源,将收集额外的120套
亲属配对和基因分型工作将在独立的
实验室设施。通过这种国际努力,
可以在大约240对中鉴定基因。此外,候选人
将使用传递/不平衡检验研究基因,
肾上腺素能。多巴胺能GABA能和相关疾病候选者
(结核性硬化)。连锁不平衡研究,在350个
只有一个自闭症孩子的家庭和80个有一个自闭症孩子的家庭
伯格氏症将允许确定是否有
不同的易感基因参与单纯型自闭症,多重
孤独症,或者说是自闭症。一旦自闭症的易感基因
他们在孤独症临床变异性中的作用,
自闭症中假定的较轻变异的表达,包括社会性
功能缺陷、情绪和焦虑障碍可以被识别。在
此外,确定自闭症的遗传决定因素将奠定
为制定更好的治疗干预措施奠定基础
针对自闭症的病理生理学。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Edwin H Cook其他文献
Edwin H Cook的其他文献
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{{ truncateString('Edwin H Cook', 18)}}的其他基金
GENETICS OF SEROTONIN IN AUTISM: NEUROCHEMICAL AND CLINICAL
自闭症患者血清素的遗传学:神经化学和临床
- 批准号:
7718519 - 财政年份:2008
- 资助金额:
$ 17.24万 - 项目类别:
ACE: Translational Studies of Insistence on Sameness in Autism
ACE:自闭症坚持同一性的转化研究
- 批准号:
7669340 - 财政年份:2007
- 资助金额:
$ 17.24万 - 项目类别:
GENETICS OF SEROTONIN IN AUTISM: NEUROCHEMICAL AND CLINICAL ENDOPHENOTYPES
自闭症患者血清素的遗传学:神经化学和临床内表型
- 批准号:
7292304 - 财政年份:2007
- 资助金额:
$ 17.24万 - 项目类别:
ACE: Translational Studies of Insistence on Sameness in Autism
ACE:自闭症坚持同一性的转化研究
- 批准号:
7479857 - 财政年份:2007
- 资助金额:
$ 17.24万 - 项目类别:
ACE: Translational Studies of Insistence on Sameness in Autism
ACE:自闭症坚持同一性的转化研究
- 批准号:
7904995 - 财政年份:2007
- 资助金额:
$ 17.24万 - 项目类别:
ACE: Translational Studies of Insistence on Sameness in Autism
ACE:自闭症坚持同一性的转化研究
- 批准号:
7277376 - 财政年份:2007
- 资助金额:
$ 17.24万 - 项目类别:
ACE: Translational Studies of Insistence on Sameness in Autism
ACE:自闭症坚持同一性的转化研究
- 批准号:
8129551 - 财政年份:2007
- 资助金额:
$ 17.24万 - 项目类别:
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