MOLECULAR GENETIC STUDIES OF BIPOLAR DISORDER

双相情感障碍的分子遗传学研究

• 批准号: 2674438
• 负责人: Francis J McMahon
• 金额: $ 5.63万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1996
• 资助国家: 美国
• 起止时间: 1996-05-01 至 1998-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2674438
• 关键词: autoradiography; behavioral /social science research tag; behavioral genetics; bipolar depression; chromosomes; clinical research; family genetics; genetic markers; genetic polymorphism; genotype; human data; human genetic material tag; linkage mapping; mitochondrial DNA; polymerase chain reaction; single strand conformation polymorphism

This SDAC will provide me with the additional training and skills I need to become an independent investigator in the genetics of bipolar affective disorder (BPAD). The proposed career development plan aims to extensively develop my skills in molecular genetic methods. Courses and workshops in genetic epidemiology, linkage, and association analysis will complement laboratory training in molecular genetic techniques. J. Raymond DePaulo, Kirby Smith, and Douglas C. Wallace will serve as preceptors. The training program will be enhanced by a research plan aimed at investigating the potential role that loci located on chromosome 18 and within the mitochondrial genome play in the etiology of BPAD. Both regions are implicated by prior data as potential sites of BPAD susceptibility loci. I plan to examine a defined region on chromosome 18 for microsatellite marker alleles in linkage disequilibrium with bipolar I disorder (BPI). The region I will examine has been implicated by two independent genetic linkage studies. As a parallel aim, I will screen the 16.5 kilobase mitochondrial genome for polymorphisms associated with (BPI). Both projects are types of family-based association studies. The sample will consist of BPI probands and their relatives already ascertained and clinically evaluated at Johns Hopkins. This integrated career development and research program will provide me with the expertise essential for fulfilling my long-term career goal of identifying and studying genes that play an important role in BPAD and other major mental illnesses.

该 SDAC 将为我提供所需的额外培训和技能 成为双相情感遗传学的独立研究者 障碍（BPAD）。 拟议的职业发展计划旨在广泛 发展我在分子遗传学方法方面的技能。 课程和讲习班 遗传流行病学、连锁和关联分析将补充 分子遗传学技术的实验室培训。 J·雷蒙德·德保罗， 柯比·史密斯 (Kirby Smith) 和道格拉斯·C·华莱士 (Douglas C. Wallace) 将担任导师。 培训计划将通过一项研究计划得到加强，该计划旨在 研究位于 18 号染色体上的基因座的潜在作用 线粒体基因组在 BPAD 的病因学中发挥着重要作用。 两个都 先前的数据表明这些区域是 BPAD 的潜在位点 易感位点。 我计划检查 18 号染色体上的指定区域 对于双极性连锁不平衡的微卫星标记等位基因 I紊乱（BPI）。 我将要检查的区域受到两个因素的牵连 独立的遗传连锁研究。 作为一个平行的目标，我将筛选 16.5 KB 线粒体基因组，用于与相关的多态性 （BPI）。 这两个项目都是基于家庭的关联研究。 这 样本将由 BPI 先证者及其亲属组成 在约翰·霍普金斯大学确定并进行临床评估。 这个综合的职业发展和研究计划将为我提供 拥有实现我的长期职业目标所必需的专业知识 识别和研究在 BPAD 和 BPAD 中发挥重要作用的基因 其他重大精神疾病。