HUMAN CHROMOSOME ANALYSIS & SORTING

人类染色体分析

• 批准号: 6470657
• 负责人: SCOTT CRAM
• 金额: $ 12.12万
• 依托单位: UNIVERSITY OF CALIF-LOS ALAMOS NAT LAB
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-07-01 至 2002-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6470657
• 关键词: biomedical resource; biotechnology; genetics; genome; human tissue; technology /technique

Normal human chromosomes are being sorted for subsequent analysis of genetic variations. Genetic variations are being detected by quantitative analysis of end-labeled genomic fragments. The purpose of this work is to evaluate specific human populations for altered germinal mutation rates. To this end, the Michigan group has developed two-dimensional electrophoresis of DNA fragments obtained from restriction-enzyme-digested genomic DNA. This procedure permits the analysis, on a single preparation of about 2000 DNA fragments varying in size from 1.0 to 5.0 kb in the first dimension and 0.3 to 2.0 kb in the second dimension. With single chromosome types we have demonstrated that we can increase the resolution even further. This technology should be highly efficient in monitoring for mutations resulting in loss/gain/rearrangement events in DNA fragments distributed throughout the genome (Genomics, accepted).

正常的人类染色体正在进行分类，以供后续分析 基因变异的影响。 基因变异正在被检测到， 末端标记的基因组片段的定量分析。 目的 这项工作的目的是评估特定人群的基因改变， 基因突变率 为此，密歇根集团已 开发的DNA片段的二维电泳获得 从限制性内切酶消化的基因组DNA。 该程序允许 该分析基于约2000个DNA片段的单一制备物， 第一维的大小从1.0到5.0kb变化，第一维的大小从0.3到5.0kb变化， 2.0 KB在第二个维度。 对于单染色体类型 证明了我们可以进一步提高分辨率。 这 技术应该在监测突变方面非常有效 导致DNA片段的丢失/获得/重排事件 分布在整个基因组（基因组学，接受）。