Keywords

chromosomes, DNA, environmental influences, genes, genotype, inheritance, phenotype, transcription, translation

 

Authors

  1. Schwertz, Dorie W. PhD, RN
  2. McCormick, Kathleen M. PhD

Abstract

This article reviews the molecular basis of genetic disorders. It is presented at an introductory level, assuming that the reader has a good physiologic background but has little expertise in the fields of molecular biology and molecular genetics. It addresses the following questions: (1) What is DNA? (2) What are genes and chromosomes? (3) How are genes expressed and how is gene expression regulated? (4) How is DNA replicated? (5) How is genetic material inherited? (6) How is phenotype determined? (7) How are genetic diseases inherited? The goal of this article is to provide vocabulary and concepts that are key for understanding the substantive articles that follow on the subjects of clinical genetics, gene therapy, ethical issues in genetics, and the molecular genetics of cardiovascular disorders. Included in this article is a list of key terms with a corresponding page number where the term is defined or discussed. This should be used as a resource for reading the other articles. In addition, further readings, programmed CDs, and web sites in the areas of molecular biology and molecular genetics are suggested.