ETIOLOGY OF SPORADIC CONGENITAL ANOMALY SYNDROME

散发性先天性异常综合征的病因

• 批准号: 5203410
• 负责人: L BIESECKER
• 金额: --
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/5203410
• 关键词: child (0-11); chromosome translocation; congenital disorders; gene expression; gene frequency; human population genetics; human subject; nucleic acid sequence; pathologic process; protein tyrosine kinase; receptor; syndrome

The main focus of this years work has been to supply and staff the laboratory and to establish the repertoire of basic procedures necessary to accomplish the projects that I have initiated. In addition, I have continued work from my postdoctoral project at Michigan. The continuation of the Michigan work involves characterization of a tyrosine kinase receptor termed Etk-2. We cloned this receptor from embryonic tissue, generated cDNA sequence, determined the 5' exon structure and characterized some of expression pattern. This work will continue in collaboration with Dr. Stephen Emerson of the University of Philadelphia. The major new laboratory project is a protocol titled "Etiology of sporadic multiple congenital anomaly syndrome." The goal of this project is to determine the frequency of uniparental disomy and submicroscopic translocations in a population of children with undiagnosed birth defect syndromes. Three staff are dedicated to this project, the techniques have successfully been implemented and patient recruitment has been initiated.

今年工作的主要重点是供应和工作人员， 实验室，并建立必要的基本程序库 来完成我发起的项目 另送上 继续我在密歇根的博士后项目。 的 密歇根州的工作继续涉及表征酪氨酸 称为Etk-2的激酶受体。 我们从胚胎中克隆了这种受体 组织，产生cDNA序列，确定5'外显子结构， 具有一定的表达模式。 这项工作将在 与费城大学的Stephen Emerson博士合作。 主要的新实验室项目是一项名为“病原学”的协议。 散发性多发性先天性异常综合征“这个项目的目标是 是确定单亲二体和亚显微的频率 未确诊出生缺陷儿童人群中的易位 综合征 三名工作人员致力于这个项目，技术 已成功实施，患者招募已 启动。