GENETIC ANALYSIS OF HUMAN CELLULAR GENES IN NEOPLASTIC TRANSFORMATION

为了对基础代谢有更全面的了解 正常或疾病细胞所固有的过程，即基因蓝图 对正在研究的有机体的研究是必要的。鉴于……的存在 人类中数千种遗传病，一张基因图谱有助于 基因发现，是评估的必要要求 基因结构和功能。一旦疾病部位被分离出来， 描述了它们细胞生物学的各个方面，并了解了它们的各个方面， 然后，体细胞基因治疗的策略可能会被开发出来。后者 该方法代表了一种以前无法治愈的治疗方案 条件。人类的基因图谱正在加速进行。 在过去的二十年里，由于一系列的技术发展。 人-啮齿动物细胞杂交，直接原位染色体杂交， 发现高度多态的DNA标记，建立 三代参考族，数学算法有 所有这些都对超过10,000个基因的放置做出了巨大贡献 标记到当前的人类基因图谱上。遗传科已经被 多年来积极参与一项国际性的 利用上述所有功能进行基因定位的协作工作 描述的技术。一些已经被定位的基因 最近发现了一种新的蛋白质二硫键异构酶，几种信号 转录转导和激活因子(STAT基因座)，一种肌动蛋白 捆绑蛋白、各种白介素类等免疫学 细胞因子，以及在人类肿瘤中差异表达的基因。 首席研究员在人类基因组计划中担任代表 作为人类基因组组织(Hugo)的当选成员， 国际比较基因图谱委员会主席。

In order to gain a more complete understanding of the basic metabolic processes inherent in a normal or diseased cell, a genetic blueprint of the organism under study is necessary. Given the existence of several thousand genetic diseases in man, a genetic map facilitates gene discovery and is a necessary requirement for the assessment of gene structure and function. Once disease loci have been isolated and characterized and various aspects of their cell biology understood, then strategies for somatic gene therapy may be developed. This latter approach represents a therapeutic solution for previously untreatable conditions. Gene mapping in humans has proceeded at an accelerated pace over the past two decades due to a series of technical developments. Human-rodent cell hybrids, direct in situ chromosome hybridization, the discovery of highly polymorphic DNA markers, the establishment of three-generation reference families, and mathematical algorithms have all contributed enormously to the placement of over 10,000 genes and markers to the current human genetic map. The Genetics Section has been actively involved for a number of years in an international collaborative gene mapping effort by utilizing all of the above described technologies. Some of the genes that have been mapped recently include a novel protein disulfide isomerase, several signal transducers and activators of transcription (Stat loci), an actin bundling protein, various interleukins and other immunological cytokines, and gene that are differentially expressed in human tumors. The principal investigator is represented in the human genome projects as an elected member of the Human Genome Organization (HUGO) and is chairman o the International Committee of Comparative Gene Mapping.