GENETIC ANALYSIS OF HUMAN CELLULAR GENES IN NEOPLASTIC TRANSFORMATION

人类基因定位已成为当代人类基因组学的一个组成部分。 医学基因研究 二十年前， 限于某些血型抗原、酶 多态性和X连锁的形态性状。 今天5 000 - 10 000人 基因、脆性位点和多态性DNA标记已被置于 基因图谱 目前使用三种类型的图谱：细胞遗传学， 链接和物理。 细胞遗传学图谱通常用于分配 已知基因在染色体上的位置。 这对癌症非常有用 遗传学，其中存在关于细胞遗传学畸变的信息， 肿瘤的 连锁作图需要分析基因的共分离， 大量减数分裂产物中的多态位点。 这种地图 用于基因分离的定位克隆方法， 分离特定疾病表型的家族可用于 study. 物理测绘是指高分辨率的施工 分子重叠群利用专门的克隆载体。 这是 疾病基因分离和鉴定的最后一步， 含有感兴趣的遗传物质的DNA的检测在 顺序和功能级别。 遗传学科维持一个 积极的基因定位奋进对这三个方面都有贡献 地图的类型。 这些人类基因图谱的分配推进了 人类和哺乳动物基因组的基本生物学知识， 定位可能被认为是候选基因座的功能基因， 疾病表型，并提供连锁信息，可用于 用于疾病基因鉴定的定位克隆策略。

Human gene mapping has become an integral component of contemporary medical genetic research. Two decades ago the number of assignments was limited and restricted to certain blood group antigens, enzyme polymorphisms and X-linked morphological traits. Today 5,000-10,000 genes, fragile sites, and polymorphic DNA markers have been placed upon the gene maps. Three types of maps are currently used: cytogenetic, linkage and physical. The cytogenetic map typically is used to assign known genes to positions on chromosomes. This is very useful in cancer genetics where information exists regarding cytogenetic aberrations in tumors. Linkage mapping requires the analysis of co-segregation of polymorphic loci in large numbers of meiotic products. This type of map is used in the positional cloning approach to gene isolation where families segregating particular disease phenotypes are available for study. Physical mapping refers to the construction of high resolution molecular contigs utilizing specialized cloning vectors. This is the final step in disease gene isolation and characterization where a piece of DNA containing the genetic material of interest is examined at the sequence and functional levels. The Genetics Section maintains a vigorous gene mapping endeavor where contributions are made to all three types of maps. These assignments to the human gene map advance the fundamental biological knowledge of the human and mammalian genome, localize functional genes that may be considered as candidate loci for disease phenotypes, and provide linkage information that may be used in positional cloning strategies for disease gene identification.