key concept 15.3 Mutations Can Be Detected and Analyzed

A challenge for biologists studying mutations is to precisely describe the DNA changes that lead to specific protein changes—an area of research called molecular genetics. Of course, the most direct and comprehensive way to analyze DNA is to determine its sequence of bases. DNA sequencing technologies are continually improving, and the entire genomes of many organisms have now been sequenced completely. Furthermore, the genomes of closely related organisms have been compared in order to identify mutations. We will discuss sequencing technology in Chapter 17. We are approaching the era where DNA sequencing will be the method of choice in searching for mutations. DNA sequencing is not yet, however, in routine use in medicine. In this section we will look at some of the techniques that are used in combination with DNA sequencing to study DNA, and to identify mutations that cause disease.

focus your learning

  • DNA sequencing techniques provide great promise for identifying mutations as part of medical diagnosis and treatment.

  • Mutations in DNA can be used to look for disease.