Genetic Variation Producing Disease-Causing Abnormalities in DNA and Chromosomes

In Chapter 4 we outlined some basic principles of genetic variation. We covered the different types of genetic variation in our genome: both large-scale changes that make up structural variation, and point mutations. And we related how sequence variation at the level of gene product relates to sequence variation at the level of DNA. Here we begin to focus on the small fraction of human genetic variation that causes disease.