HUMAN CHROMOSOME ANALYSIS & SORTING

正在对正常的人类染色体进行分类，以便进行后续分析 遗传变异。基因变异正在被检测到 末端标记基因组片段的定量分析。目的 这项工作的一部分是评估特定的人类群体的变化 生发突变率。为此，密歇根小组已经 获得的DNA片段的改进的双向电泳法 从限制性内切酶消化的基因组DNA中提取。此程序允许 对一次制备约2000个DNA片段的分析 在第一维度上大小从1.0到5.0 kb变化，在0.3到 第二维度为2.0kb。对于单染色体类型，我们有 表明我们可以进一步提高分辨率。这 技术在监测突变方面应该是高效的 导致DNA片段中的丢失/获得/重排事件 分布在整个基因组中(基因组学，接受)。

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).