Core C
Core C
批准号:
8080402
负责人:
DAVID VALLE
金额:
$12.7万
依托单位:
依托单位国家:
美国
项目类别:
财政年份:
2010
资助国家:
美国
项目状态:
已结题
起止时间:
2010-06-01 至 2012-05-31
关键词:
AshkenazimBase SequenceBiologicalBiological AssayCandidate Disease GeneChildClinicalCollectionDiagnosisDiseaseEpidemiologyExonsFrequenciesGenesGeneticGenetic ProgrammingGenomicsGenotypeHumanMapsNucleic Acid Regulatory SequencesParentsPatientsPhenotypePopulation GroupPromoter RegionsPublishingRoleSamplingSchizophreniaVariantWorkbasecase controlclinical phenotypefollower of religion Jewishgenetic analysisinterestneuropsychiatryproband
中文摘要
Genetics Core将利用约翰斯夫妇收集的大量具有严格特征的临床样本
霍普金斯流行病学/遗传学项目在安·普尔弗博士的指导下确定了
在人类表型起源的项目1-3中确定的候选基因。此样本包括683个
德系犹太人(AJ)精神分裂症(SZ)或分裂情感性(SZA)先证者;
388名近交系(OB)SZ/SZA;85名OB双相I型(BP1)先证者;122名OB先证者
神经精神表型。每组一半到三分之二的人是亲子三人组,除了
OB、BP1和OB其他作为单胞胎的组。我们将执行和/或提供以下样品
对项目1-3中确定的候选基因进行测序、基因分型和基因分析。具体来说,
我们将:1)根据生物学证据和地图的力量对候选人进行优先排序
基于已发表的作品和我们自己小组的作品的信息;2)至少48个先驱
适当的无序,我们将对所有外显子和侧翼内含子序列加上近端启动子进行测序
区域(-500bp)和在序列保守基础上确定的任何候选调节区;
3)确定的序列变体(SV)将被优先排序,然后在适当的(取决于
诊断和人群组)使用TaqMan基因分型收集患者;4)分析频率和
我们病例中SV的分布和我们三人组中可能感兴趣的对照和基因分型
采样并执行TDT分析;以及5)与确定要执行的候选基因的小组合作
SV的功能分析显示与临床表型显著相关。
英文摘要
The Genetics Core will utilize the large and rigorously characterized clinical sample collected by the Johns
Hopkins Epidemiology/Genetics program under the direction of Dr. Ann Pulver to determine the role of
candidate genes identified in Projects 1-3 in the genesis of human phenotypes. This sample includes 683
Ashkenazi Jewish (AJ) schizophrenia (SZ) or schizoaffective (SZA) probands; 1090 AJ screened controls;
388 outbred (OB) SZ/SZA; 85 OB bipolar I (BP1) probands; and 122 OB probands with related
neuropsychiatric phenotypes. Between half to two thirds of each group is as parent-child trios except for the
OB BP1 and OB other groups which are as singletons. We will perform and/or provide the samples for
sequencing, genotyping and genetic analysis of the candidate genes identified in Projects 1-3. Specifically,
we will: 1) Prioritize the candidates on the strength of the biological evidence together with mapping
information based on published work and work from our own group; 2) In at least 48 probands for the
appropriate disorder, we will sequence all exons and flanking intronic sequence plus the proximal promoter
region (-500 bp) and any candidate regulatory regions identified on the basis of sequence conservation;
3) Identified sequence variants (SV) will be prioritized and then genotyped in the appropriate (depending on
diagnosis and population group) patient collection using TaqMan genotyping; 4) Analyze the frequency and
distribution of the SV in our cases and controls and genotype those that appear to be of interest in our trio
sample and perform TDT analysis; and 5) Work with the group identifying the candidate gene to perform
functional assays of SV shown to be significantly associated with the clinical phenotype.
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专著(0)
科研奖励(0)
会议论文
Genetics Core
-
批准号:8931785
-
项目类别:
-
资助金额:$14.41万
-
财政年份:2014
-
负责人:DAVID VALLE
-
依托单位:
Baylor-Johns Hopkins Center for Mendelian Genetics
-
批准号:8237388
-
项目类别:
-
资助金额:$400.0万
-
财政年份:2011
-
负责人:DAVID VALLE
-
依托单位:
Baylor Johns Hopkins Center for Mendelian Genetics
-
批准号:9269870
-
项目类别:
-
资助金额:$22.06万
-
财政年份:2011
-
负责人:DAVID VALLE
-
依托单位:
Baylor Johns Hopkins Center for Mendelian Genetics
-
批准号:9923273
-
项目类别:
-
资助金额:$231.89万
-
财政年份:2011
-
负责人:DAVID VALLE
-
依托单位:
Baylor-Johns Hopkins Center for Mendelian Genetics
-
批准号:8845225
-
项目类别:
-
资助金额:$387.09万
-
财政年份:2011
-
负责人:DAVID VALLE
-
依托单位:
Baylor-Johns Hopkins Center for Mendelian Genetics
-
批准号:8393220
-
项目类别:
-
资助金额:$379.16万
-
财政年份:2011
-
负责人:DAVID VALLE
-
依托单位:
Baylor Johns Hopkins Center for Mendelian Genetics
-
批准号:9047798
-
项目类别:
-
资助金额:$309.99万
-
财政年份:2011
-
负责人:DAVID VALLE
-
依托单位:
Baylor-Johns Hopkins Center for Mendelian Genetics
-
批准号:8601122
-
项目类别:
-
资助金额:$389.07万
-
财政年份:2011
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
-
批准号:7479370
-
项目类别:
-
资助金额:$247.78万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
Genotyping for Studying the Genetic Contributions to Human Disease
-
批准号:7941280
-
项目类别:
-
资助金额:$1125.55万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
-
批准号:7929667
-
项目类别:
-
资助金额:$295.53万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
-
批准号:8332915
-
项目类别:
-
资助金额:$100.0万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
-
批准号:7502429
-
项目类别:
-
资助金额:$549.63万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
-
批准号:7690586
-
项目类别:
-
资助金额:$198.0万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
HIGH THROUGHPUT GENOTYPING FOR STUDING THE GENETIC CONTRIBUTIONS TO HUMAN DISEAS
-
批准号:7542695
-
项目类别:
-
资助金额:$2137.96万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:--
JH/CIDR Genotyping for Genome-Wide Association Studies
-
批准号:7676239
-
项目类别:
-
资助金额:$160.55万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
-
批准号:7693055
-
项目类别:
-
资助金额:$126.2万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
CIDR Genotyping
-
批准号:7978581
-
项目类别:
-
资助金额:$46.92万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
-
批准号:7942285
-
项目类别:
-
资助金额:$193.25万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
JH/CIDR Genotyping for Genome-Wide Association Studies
-
批准号:7327916
-
项目类别:
-
资助金额:$352.15万
-
财政年份:2007
-
负责人:DAVID VALLE
-
依托单位:
海外基金