Introduction to human genetics

Martin Delatycki & Grant Blashki

“No field of medicine has changed in so dramatic a fashion as has been the case with human genetics. It is only 40 years ago this year that the first human gene was isolated. Back then, identifying a single chemical in the human genome took days. Now it is possible to sequence the three billion chemicals in the genome in a similar time. In this chapter, the basic terminology and principles of genetics are outlined. Some of the major leaps forward in gene technology are also explained, and how these have really opened the window to our understanding of human genetics. It may seem a bit confusing for someone who has not learnt about genetics before, and we have outlined some key terms and rules of genetics …”