Introduction to Human Genetics ∗

Advances in human genetics, and particularly the sequencing of the human genome, have greatly increased the power of both gene discovery and diagnosis and treatment of both rare and common diseases. This chapter provides a review of the basic principles of human genetics, including molecular genetics, cytogenetics, genetic transmission, and genomics. It then provides an introduction to the principles of genetic testing and major approaches to the treatment of genetic disorders. It also offers suggestions to the clinical investigator regarding the approach to phenotypic assessment in future studies of the genetic basis of a single gene and multifactorial disorders.