This document provides an overview of human genetics concepts and applications. It discusses that genetics is the study of inherited traits and genes, which contain DNA instructions for protein production. The human genome was sequenced in 2000. Genetic testing can detect health-related variants and provide risk information. Counseling helps explain genetic testing results. Examples of tests include those for cystic fibrosis and certain cancers. DNA and RNA are described, as are genes, alleles, chromosomes, karyotypes, levels of biological organization, genotypes, phenotypes, pedigrees, populations, and evolution. Applications of genetics include forensics, health care, agriculture, and ecology.

1. Human Genetics Concepts and Applications Seventh Edition Powerpoint Lecture Outline Ricki Lewis Prepared by Mary King Kananen Penn State Altoona Edited RP Fall 2007

2. Overview of Genetics Chapter 1

12. Box Figure 1.1

14. Box Figure 1.2

19. A Karyotype is a chart of the chromosomes organized by the size of the chromosome pairs. Figure 1.3

29. Genetic Risk Absolute risk the probability that an individual will develop a condition or trait Relative risk the likelihood that an individual from one group will develop a condition in comparison to another group (usually the general population) Empiric risk risk determined by observing incidence of a trait in the population Risk factor a situation that alters incidence of a disease (or trait)

33. Figure 1.10