RESTRICTION FRAGMENT LENGTH POLYMORPHISMS IN NORMAL AND NEOPLASTIC HUMAN TISSUES

正常和肿瘤人体组织中的限制性片段长度多态性

• 批准号: 3813381
• 负责人: B ZBAR
• 金额: --
• 依托单位: DIVISION OF CANCER BIOLOGY AND DIAGNOSIS
• 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/3813381
• 关键词: alleles; autosomal dominant trait; biochemical evolution; biological polymorphism; disease /disorder proneness /risk; gene deletion mutation; genetic library; genetic mapping; genetic markers; hemangioma; human population genetics; human subject; human tissue; kidney neoplasms; linkage mapping; meiosis; molecular oncology; neoplasm /cancer; neoplasm /cancer genetics; nucleic acid probes; nucleic acid sequence; oncogenes; restriction fragment length polymorphism; restriction mapping; small cell lung cancer; syndrome

The major goal of the research effort was to precisely locate the von Hippel-Lindau disease (VHL) gene. Multipoint linkage analysis was performed with a panel of 25 families with von Hippel-Lindau disease. The results of this analysis indicate that the most likely location for the von Hippel-Lindau disease gene is on chromosome 3 in the interval between RAF1 and D3S18. A probe was identified that is inherited with the von Hippel-Lindau disease gene in 96% of genetic events (meiosis). Because probe CRI-L162 (D3S18) is consistently inherited with the disease gene it should prove to be useful in presymptomatic diagnosis of von Hippel-Lindau disease. A prospective trial to test this hypothesis is in progress. Asymptomatic, at-risk individuals were examined for evidence of von Hippel-Lindau disease. Twenty-two asymptomatic individuals were found to have the disease. These individuals were treated at the National Cancer Institute or were referred for treatment by physicians in their communities.

研究工作的主要目标是精确定位冯 Hippel-Lindau病（VHL）基因。进行多点连锁分析 由25个患有冯·希佩尔-林道病的家庭组成的小组。的结果 这一分析表明，冯最有可能的位置， Hippel-Lindau病基因位于3号染色体RAF 1 D3S18 一个探针被确定是遗传与冯希佩尔-林道病 基因在96%的遗传事件（减数分裂）。由于探头CRI-L162（D3 S18） 它应该被证明是有用的 在von Hippel-Lindau病症状前诊断中的应用。一项前瞻性 目前正在对这一假设进行检验。 检查无症状的高危个体是否存在血管性血友病的证据。 Hippel-Lindau病二十二名无症状人士被发现 得了这种病。这些人在国家癌症中心接受治疗， 研究所或由医生转诊治疗， 社区.