IDENTIFICATION OF NEW MUTATIONS IN THE NF2 GENE

产品说明： 研究计划：候选人希望最终改善诊断 和前庭神经鞘瘤的治疗。他假设， NF 2肿瘤抑制基因中的特定突变解释了 这些患者的临床表现。目标是定义：1） NF 2肿瘤抑制基因中存在的特定突变，2） 特定突变与临床表现的关系，以及3） 特定突变与细胞增殖分数的关系。 研究将在150个存档的神经鞘瘤中进行， 合作团体。临床数据将从病历审查中获得 和X光研究。在特异性目的1中，异源双链体分析，单- 链构象多态性（SSCP）和mRNA突变分析将 以确定存在的突变类型。流式细胞术和 免疫组织化学分析技术将用于测量 肿瘤组织中细胞增殖的直接指标。

DESCRIPTION: Research Program: The candidate hopes to eventually improve the diagnosis and treatment of vestibular schwannomas. He hypothesizes that the specific mutations in the NF2 tumor suppressor gene account for the clinical findings in these patients. The goals are to define: 1) the specific mutations present in the NF2 tumor suppressor gene, 2) the relation of specific mutations to clinical manifestations, and 3) the relation of specific mutations to cellular proliferation fractions. Studies will be carried out in 150 archived schwannomas from his collaborator groups. Clinical data will be obtained from chart reviews and x-ray studies. In Specific Aim 1, heteroduplex analysis, single- strand conformation polymorphism (SSCP) and mRNA mutation analyses will be performed to determine types of mutations present. Flow cytometry and immunohistochemical analysis techniques will be used for measuring direct indicators of cellular proliferation in the tumor tissues.