SCREENING TEST FOR CYSTIC FIBROSIS CARRIERS (PHASE II)

囊性纤维化是最常见的致死性遗传病。 美国和欧洲的白人人口。这样做的目的是 项目是使用重组DNA技术来获取信息 有必要设计一种检测CF基因携带者的方法。在项目的第一阶段 大淋巴母细胞将建立成淋巴母细胞系 血统提供来自家庭成员的DNA来源。这个DNA将会是 在第二阶段使用DNA确定每个个体的基因 检测限制片段长度多态的探针。这个 Cf基因的染色体位置将由遗传连锁决定 这样的DNA标记。然后，特定于染色体的克隆程序将 应用于克隆和鉴定致病基因。这 关于CF基因产物的信息将被用来设计一种 对CF基因携带者的可靠检测可用于所有成年人的筛查 在普通人群中。

Cystic fibrosis (CF) is the most common lethal genetic disease affecting the white population in the United States and Europe. The goal of this project is to use recombinant DNA technology to gain the information necessary to design a test for CF gene carriers. In Phase I of the project lymphoblastoid cell lines will be established from members of large CF pedigrees to provide a source of DNA from family members. This DNA will be used in Phase 2 to determine the genotype of each individual using DNA probes that detect restriction fragment length polymorphisms. The chromosomal location of the CF gene will be determined by genetic linkage to such DNA markers. Chromosome specific cloning procedures will then be applied to cloning and characterizing the gene causing CF. This information concerning the CF gene product will be used to design a reliable test for CF gene carriers that could be used to screen all adults in the general population.