Core--Genetic analysis

核心--遗传分析

• 批准号: 6587645
• 负责人: James G Wetmur
• 金额: $ 8.37万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-04-15 至 2003-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6587645
• 关键词: Parkinson's disease; biomedical facility; chlorohydrocarbon; environmental contamination; environmental toxicology; gene environment interaction; genetic polymorphism; genotype; human tissue; lead; metal metabolism; nucleic acid sequence; polymerase chain reaction

DESCRIPTION (Taken from application) The Mount Sinai Superfund Basic Research Program Genetic Analysis Core, Core E, will carry out all nucleic acid based assays required for the biomedical Research Projects 10 and 3. The Core will extract and store coded human DNA samples for genotype analyses. Biallelic genotypes will be determined by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) or allele-specific PCR. Competing technologies may be substituted for cost reduction. The work of this Core will determine and characterize human polymorphisms known to affect lead metabolism [ALAD, VDR and HFE]. Also, the Core will examine polymorphisms affecting metabolism of organochlorines that may contribute gene-environment interactions potentially relevant to the genesis of Parkinson's Disease [CYP2D6, CYP2E1, PON1 and GSTP1, as well as known and newly-derived polymorphisms in PON2 and PON3]. Additional polymorphisms will be determined as requested by the Research Project Directors. The Core will determine mouse WNT4, WNT5a and WNT7a genotypes of progeny in crosses of knock-out mice in support of Research Project 9. The Core will search for human WNT polymorphisms for the three mouse WNT genes studied in Project 9. Human PON2 and PON3 will also be investigated. The Core will search for additional human polymorphisms as requested by the Directors of the Research Projects.

描述（取自应用程序） 西奈山超级基础研究计划遗传分析核心，核心 E将进行生物医学所需的所有基于核酸的测定 研究项目10和3。核心将提取和存储编码的人类DNA 用于基因型分析的样品。双重基因型将由PCR-RFLP确定 （聚合酶链反应限制片段长度多态性）或 等位基因特异性PCR。竞争技术可以代替成本 减少。该核心的工作将决定并表征人类 已知影响铅代谢的多态性[Alad，VDR和HFE]。另外， 核心将检查影响有机氯代谢的多态性 可能造成基因环境相互作用，可能与 帕金森氏病的起源[CYP2D6，CYP2E1，PON1和GSTP1，以及 PON2和PON3]中的已知和新衍生的多态性。额外的 多态性将按照研究项目的要求确定 导演。核心将确定小鼠Wnt4，Wnt5a和Wnt7a的基因型 淘汰小鼠十字架的后代支持研究项目9。 核心将寻找三种小鼠Wnt基因的人类Wnt多态性 在项目9中进行了研究。人PON2和PON3也将进行研究。核心 会根据董事要求寻找其他人类多态性 研究项目。