MOLECULAR GENETICS & CELL BIOLOGY OF MARFAN SYNDROME

分子遗传学

• 批准号: 3433768
• 负责人: JAN A WITKOWSKI
• 金额: $ 1万
• 依托单位: COLD SPRING HARBOR LABORATORY
• 依托单位国家: 美国
• 财政年份: 1991
• 资助国家: 美国
• 起止时间: 1991-12-15 至 1992-12-14
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3433768
• 关键词: Marfan syndrome; cellular pathology; diagnosis design /evaluation; extracellular matrix; gene expression; gene mutation; genetic disorder diagnosis; genetic markers; linkage mapping; molecular cloning; nucleic acid probes; phenotype; travel; workshop

Recent research on Marfan Syndrome has centered on linkage analysis and on the cell biology and biochemistry of affected cells and tissues. Both approaches are producing exciting results. Intensive linkage studies have considerably narrowed the number of possible chromosomal locations, and linkage to chromosome 15 markers has been reported at meetings. The progress in this area is rapid and the various laboratories pursuing this approach should be brought together to combine their data and to evaluate the present status of the Marfan linkage map. At the same time, cell biology studies have shown that there is a considerable reduction in fibrillin staining in the matrix produced by cultured cells from some MS patients, and that this abnormality is inherited in a Mendelian fashion in affected families. These results suggest that the fibrillin gene, or a gene for another protein associated with the microfibrils, should be regarded as strong candidates for the Marfan mutation. There is a clear perception on the part of scientists involved with research on Marfan Syndrome that the time is right for a wide-ranging review of both the genetic and biochemical aspects of Marfan Syndrome. The proposed meeting will be for two days and amongst the topics to be discussed are: a review of the diagnostic criteria for Marfan Syndrome and related phenotypes, and a discussion of whether these need to be redefined; an evaluation of all those studies purporting to find abnormalities in extracellular matrix components; a critical review of the latest findings of linkage of Marfan Syndrome with markers, both candidate gene probes and anonymous probes; a discussion of the best way to utilize scarce resources, and how to encourage further collaboration between laboratories. We believe that by bringing together scientists from different areas of research, new ideas for further experimentation will be generated that will speed the task of finding the genetic and physiological basis for the disease.

马凡氏综合征的最新研究集中在连锁分析和 受影响细胞和组织的细胞生物学和生物化学。 两 这些方法正在产生令人兴奋的结果。 密集的联系研究， 大大缩小了可能的染色体位置的数量， 与15号染色体标记的连锁已在会议上报告。 的 这一领域的进展是迅速的，追求这一目标的各种实验室 应将各种方法汇集在一起，联合收割机结合其数据， 马凡连锁图谱的现状。 与此同时，Cell 生物学研究表明， 某些MS培养细胞产生的基质中的白蛋白染色 患者，这种异常是遗传在孟德尔的方式， 受影响的家庭。 这些结果表明， 与微纤维相关的另一种蛋白质的基因， 被认为是马凡氏突变的有力候选者。 参与研究的科学家们有一个明确的看法， 马凡氏综合征的研究，现在是时候进行广泛的 综述马凡氏综合征的遗传和生化方面。 的 拟议的会议将持续两天，其中的主题是 讨论的是：审查诊断标准的马凡氏综合征和 相关的表型，并讨论这些是否需要重新定义; 对所有那些声称发现 细胞外基质成分;最新发现的评论 马凡氏综合征与标记物的连锁，候选基因探针和 匿名探测;关于利用稀缺资源的最佳方式的讨论， 以及如何鼓励实验室之间的进一步合作。 我们 我相信，通过将不同领域的科学家聚集在一起， 研究，将产生进一步实验的新想法， 加快寻找遗传和生理基础的任务， 疾病