Overview
Main description
The study of human genetics is the study of inherited variations among people. Some of these variations cause disease. The goal of this Case Workbook is to place the information in Human Genetics: Concepts and Applications into real context. Most of the cases come from the medical or scientific literature, with an emphasis on the unusual. Many introduce information and details that are not found in textbooks. Each case includes information, Online Mendelian Inheritance in Man number, if it concerns a single gene disorder, and questions. The cases are organized to follow the chapter outline of the textbook. They are followed by a large section of "Connections and Synthesis" questions that draw from several parts of the textbook and are an excellent tool to study for a final exam.
Most of the questions require thinking and problem-solving skills, rather that straight recall of facts or terminology. This approach reflects the skills required of a genetic counselor - powerful observation, data interpretation, reasoning, and communicating. For years, the primary tools of the genetic counselor and medical geneticist were the pedigree and karyotype. Today, analysis of an inherited condition often embraces molecular information too. Applying Mendel's laws to predict recurrence risks and to identify carriers, as well as interpreting DNA microarray tests, uses probability as well as logic. Would a person with a particular condition live long enough or feel well enough to have children? Under what conditions would an extremely rare disorder be unusually prevalent? Where in the body must a gene therapy be targeted to alleviate symptoms? More generally, which facts in a case are relevant to answering particular questions?
Solving genetic problems may help you get the most out of other types of information too. Have fun!
