ABSTRACT

Recent advances in molecular biology and its application to medicine have led to an ever improving understanding of the genetic lesions that underlie a large number of disease states. However, knowledge of the alteration in the genetic code that is linked to the illness tells us little about how the change affects underlying molecular mechanisms that leads to phenotype. To achieve this we must understand the functions and malfunctions of the protein coded by the mutant gene. In this section the details of some of the techniques commonly used to investigate protein form and function will be discussed with respect to a number of common respiratory syndromes.