• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Investigation of two variants in the DOPA decarboxylase gene in patients with autism.自闭症患者多巴脱羧酶基因中两个变异体的研究。
Am J Med Genet. 2002 May 8;114(4):466-70. doi: 10.1002/ajmg.10379.
2
Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder.自闭症谱系障碍中的5-羟色胺转运体基因多态性与5-羟色胺血症
Mol Psychiatry. 2002;7(1):67-71. doi: 10.1038/sj/mp/4000923.
3
Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism.神经元细胞粘附分子（NRCAM）基因变异与自闭症的关联。
Int J Neuropsychopharmacol. 2009 Feb;12(1):1-10. doi: 10.1017/S1461145708009127. Epub 2008 Jul 30.
4
Lack of Association Between Polymorphisms in Dopa Decarboxylase and Dopamine Receptor-1 Genes With Childhood Autism in Chinese Han Population.在中国汉族人群中，多巴脱羧酶和多巴胺受体-1基因多态性与儿童孤独症之间无关联。
J Child Neurol. 2016 Apr;31(5):560-4. doi: 10.1177/0883073815601496. Epub 2015 Sep 3.
5
Association study between two variants in the DOPA decarboxylase gene in bipolar and unipolar affective disorder.双相情感障碍和单相情感障碍中多巴脱羧酶基因两个变异体的关联研究。
Am J Med Genet. 2002 Jul 8;114(5):519-22. doi: 10.1002/ajmg.10308.
6
Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism.自闭症患者生长抑素受体5（SSTR5）基因新型多态性的传递分析。
Am J Med Genet B Neuropsychiatr Genet. 2003 Aug 15;121B(1):100-4. doi: 10.1002/ajmg.b.20050.
7
Family-based association study between autism and glutamate receptor 6 gene in Chinese Han trios.中国汉族三口之家自闭症与谷氨酸受体6基因的基于家系的关联研究。
Am J Med Genet B Neuropsychiatr Genet. 2004 Nov 15;131B(1):48-50. doi: 10.1002/ajmg.b.30025.
8
Two novel variants in the DOPA decarboxylase gene: association with bipolar affective disorder.多巴脱羧酶基因中的两个新变异：与双相情感障碍的关联。
Mol Psychiatry. 1999 Nov;4(6):545-51. doi: 10.1038/sj.mp.4000559.
9
Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples.在两个种族不同的样本中，血清素转运体基因启动子变体与自闭症谱系障碍之间不存在关联。
Am J Med Genet. 2000 Feb 7;96(1):123-7.
10
The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.NADH-泛醌氧化还原酶 1 亚基 5（NDUFA5）基因变异与自闭症有关。
Acta Psychiatr Scand. 2011 Feb;123(2):118-24. doi: 10.1111/j.1600-0447.2010.01600.x. Epub 2010 Sep 5.

引用本文的文献

1
Molecular genetics of autism spectrum disorders.自闭症谱系障碍的分子遗传学
J Hum Genet. 2003;48(10):495-501. doi: 10.1007/s10038-003-0064-9. Epub 2003 Sep 11.
2
Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism.自闭症患者生长抑素受体5（SSTR5）基因新型多态性的传递分析。
Am J Med Genet B Neuropsychiatr Genet. 2003 Aug 15;121B(1):100-4. doi: 10.1002/ajmg.b.20050.

本文引用的文献

1
Role of the serotonin transporter gene in the behavioral expression of autism.血清素转运体基因在自闭症行为表现中的作用。
Mol Psychiatry. 2001 Jul;6(4):434-9. doi: 10.1038/sj.mp.4000873.
2
The genetics of autism.
Acta Psychiatr Scand. 2001 Jun;103(6):411-27. doi: 10.1034/j.1600-0447.2001.00086.x.
3
Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.7号染色体q臂上自闭症易感基因座AUTS1的进一步特征分析。
Hum Mol Genet. 2001 Apr 15;10(9):973-82. doi: 10.1093/hmg/10.9.973.
4
Evidence for an association with the serotonin transporter promoter region polymorphism and autism.血清素转运体启动子区域多态性与自闭症关联的证据。
Am J Med Genet. 2001 May 8;105(4):381-6. doi: 10.1002/ajmg.1365.
5
The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism.《孤独症诊断观察量表通用版》：一种用于评估与孤独症谱系相关的社交和沟通缺陷的标准测量工具。
J Autism Dev Disord. 2000 Jun;30(3):205-23.
6
Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31.来自两个涉及7q31带的染色体重排对孤独症和特定语言障碍与7q3连锁的支持。
Am J Med Genet. 2000 Apr 3;96(2):228-34. doi: 10.1002/(sici)1096-8628(20000403)96:2<228::aid-ajmg20>3.0.co;2-g.
7
Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.在一名自闭症个体中，发现7号染色体7q31区域上的一个新基因被易位断点打断。
Am J Hum Genet. 2000 Aug;67(2):510-4. doi: 10.1086/303005. Epub 2000 Jul 7.
8
Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples.在两个种族不同的样本中，血清素转运体基因启动子变体与自闭症谱系障碍之间不存在关联。
Am J Med Genet. 2000 Feb 7;96(1):123-7.
9
An autosomal genomic screen for autism. Collaborative linkage study of autism.一项自闭症的常染色体基因组筛查。自闭症的协作性连锁研究。
Am J Med Genet. 1999 Dec 15;88(6):609-15. doi: 10.1002/(sici)1096-8628(19991215)88:6<609::aid-ajmg7>3.3.co;2-c.
10
Two novel variants in the DOPA decarboxylase gene: association with bipolar affective disorder.多巴脱羧酶基因中的两个新变异：与双相情感障碍的关联。
Mol Psychiatry. 1999 Nov;4(6):545-51. doi: 10.1038/sj.mp.4000559.

自闭症患者多巴脱羧酶基因中两个变异体的研究。

Investigation of two variants in the DOPA decarboxylase gene in patients with autism.

作者信息

Lauritsen Marlene B, Børglum Anders D, Betancur Catalina, Philippe Anne, Kruse Torben A, Leboyer Marion, Ewald Henrik

机构信息

Department of Psychiatric Demography, Institute for Basic Psychiatric Research, Psychiatric Hospital in Aarhus, Risskov, Denmark.

出版信息

Am J Med Genet. 2002 May 8;114(4):466-70. doi: 10.1002/ajmg.10379.

DOI:10.1002/ajmg.10379
PMID:11992572
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4826443/
Abstract

Though genetic risk factors are important for the development of autism, no specific risk alleles have yet been identified. DOPA decarboxylase (DDC) is involved in both the catecholaminergic and serotonergic pathways and may be considered a functional candidate gene for autism. The present study is the first to test if two new variants of possible functional significance in the DDC gene increase the susceptibility to autism. A total of 90 parent-offspring trios recruited in Denmark and France were investigated using the transmission disequilibrium test (TDT). We found no evidence of linkage disequilibrium between autism and either of the two polymorphisms. Nor did we find linkage disequilibrium between autism and haplotypes of the two variants using a multiallelic TDT. These findings suggest that the DDC gene is unlikely to play a major role in the development of autism in our data set.

摘要

尽管遗传风险因素对自闭症的发展很重要，但尚未确定具体的风险等位基因。多巴脱羧酶（DDC）参与儿茶酚胺能和5-羟色胺能途径，可能被视为自闭症的一个功能性候选基因。本研究首次测试DDC基因中两个可能具有功能意义的新变异体是否会增加患自闭症的易感性。使用传递不平衡检验（TDT）对在丹麦和法国招募的90个亲子三联体进行了调查。我们没有发现自闭症与这两种多态性中的任何一种之间存在连锁不平衡的证据。使用多等位基因TDT，我们也没有发现自闭症与这两个变异体的单倍型之间存在连锁不平衡。这些发现表明，在我们的数据集中，DDC基因不太可能在自闭症的发展中起主要作用。