CHARACTERIZATION OF THE HUMAN GENOME

人类基因组的特征

• 批准号: 2674199
• 负责人: LEONARD S LERMAN
• 金额: $ 37.27万
• 依托单位: MASSACHUSETTS INSTITUTE OF TECHNOLOGY
• 依托单位国家: 美国
• 财政年份: 1987
• 资助国家: 美国
• 起止时间: 1987-09-01 至 2000-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2674199
• 关键词: DNA; biological polymorphism; chromosome aberrations; computer assisted sequence analysis; diagnosis design /evaluation; fluorescent dye /probe; genetic mapping; genetic techniques; genome; human genetic material tag; image processing; nucleic acid denaturation; nucleic acid probes; nucleic acid sequence; nucleobase; polymerase chain reaction; thermostability

DESCRIPTION (Adapted from the Investigator's Abstract): Studies on DNA melting are proposed that will lead to a novel method for comprehensive detection of sequence variants in human genes. The method differs from current procedures in offering rapid, readily automatable, reliable, and fully exhaustive indication of polymorphisms and mutations. The approach, like that of denaturing gradient gel electrophoresis, depends on melting theory and on the perturbation of the melting temperature of DNA by the presence of single-base (or larger) sequence changes or mismatches; but electrophoresis is replaced by fluorescence. In freezing detection from electrophoresis, the technique will permit rapid, simultaneous scrutiny of many small samples, a substantial length of sequence in each. The project will consist of the following efforts: (1) introduction of fluorescence as an indicator of DNA melting; (2) melting observation of DNA bound to a silica surface; (3) analysis of the distribution of thermal stability in a microbial gene using a large set of mutants; (4) rigorously testing melting theory with those results; (5) applying the detection system to detection of mutants in human Y chromosome genes (in collaboration with D. Page); and (6) analysis of the dependence of the domain structure of DNA on components of its environment - ions, etc. When incorporated into subsequent engineering development, this approach can be expected to effect a major change in the feasibility of large-scale mutation analysis and screening.

描述（改编自研究者摘要）：DNA研究