ISOLATION OF THE GORLIN SYNDROME GENE

戈林综合征基因的分离

• 批准号: 2414273
• 负责人: MAE R GAILANI
• 金额: $ 9.84万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-05-01 至 1999-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2414273
• 关键词: artificial chromosomes; autosomal dominant trait; basal cell carcinoma; chromosome deletion; complementary DNA; fibroma; gene expression; gene mutation; genetic library; genetic mapping; genetic markers; genetic polymorphism; human subject; medulloblastoma; molecular cloning; neoplasm /cancer education; neoplasm /cancer genetics; nucleic acid probes; nucleic acid repetitive sequence; ovary neoplasms; skin neoplasms; tumor suppressor genes

This proposal is a revision of a Physician Scientist Award. The objective of the program is to provide the applicant with a structured educational experience in molecular biology that will train her for independent career in academic medicine. Her developing knowledge and laboratory experience will be applied to the isolation and characterization of the Gorlin syndrome gene, a probable tumor suppressor that is important in normal embryogenesis and development. Her sponsor, Dr. Allen Bale, is an Assistant Professor in the department of Genetics with a long standing interest in cancer predisposition syndromes and the role of cancer related genes in development. The program has been divided into two phases according to the guidelines for the K11 award program and will be completed over a period of five years. The didactic program of Phase I will include laboratory meetings, lectures in the Department of Genetics, and formal course work on statistical genetics, cytogenetics, molecular biology of eukaryotic cells, developmental biology, and advance topics in molecular genetics. Her research during this phase will include screening a chromosome 9 microdissected library for new STRs mapping to the Gorlin syndrome region, tumor deletion mapping with the new probes, and construction of a YAC contig of the region. The transition from Phase I to Phase II will consist of an oral exam and formal presentation of research progress to the advisory committee. During Phase II the great bulk of the applicant's time will be spent in the laboratory, and emphasis will be placed on developing self confidence and independence in the use of sophisticated scientific methodology. She will continue to construct a YAC contig and isolate candidate cDNAs from the contig, as well as isolated expressed sequences from the microdissected library. Ultimately she will test the candidate genes by analyzing their expression in tumor and normal tissue and searching for mutations in Gorlin syndrome patients.

该提案是对医师科学家奖的修订。 这 该计划的目标是为申请人提供结构化的 分子生物学方面的教育经验将训练她 学术医学的独立职业。 她不断发展的知识和 实验室经验将应用于隔离和 Gorlin 综合征基因（一种可能的肿瘤抑制基因）的特征 这对于正常的胚胎发生和发育很重要。 她的赞助商， Allen Bale 博士，遗传学系助理教授 对癌症易感综合症和癌症有着长期的兴趣 癌症相关基因在发育中的作用。 根据指导方针，该计划分为两个阶段 K11 奖励计划将在五年内完成 年。 第一阶段的教学计划将包括实验室会议、 遗传学系的讲座以及关于 统计遗传学、细胞遗传学、真核分子生物学 细胞、发育生物学和分子遗传学的前沿主题。 她在此阶段的研究将包括筛选 9 号染色体 用于映射 Gorlin 综合征的新 STR 的显微解剖文库 区域、用新探针进行肿瘤缺失图谱以及构建 该区域的 YAC 重叠群。 从第一阶段到第二阶段的过渡将 包括口试和正式介绍研究进展 咨询委员会。 在第二阶段，申请人的大部分时间将花在 实验室，重点是培养自信心 以及独立使用复杂的科学方法。 她 将继续构建 YAC 重叠群并从中分离候选 cDNA 重叠群，以及从 显微解剖文库。 最终她将通过以下方式测试候选基因 分析它们在肿瘤和正常组织中的表达并寻找 戈林综合征患者的突变。