Biomedical Engineering Reference
In-Depth Information
Chapter 2
DETECTION AND ANALYSIS OF NUCLEIC ACIDS
A.
Introduction
The year 2003 marked the anniversary of the paper by James
Watson and Francis Crick reporting the solution of the three dimensional
structure of deoxyribonucleic acid (DNA) (9). This achievement earned
them a Nobel Prize, which they shared in 1962 with Maurice Wilkins for
his crystallographic studies on DNA structure (Table 2). It also set the
stage for a new era which led to breakthroughs in our understanding of
the genetic code and the development of techniques that allowed for the
rapid sequencing of DNA. Eventually, the entire genome of a number of
organisms would be sequenced, culminating in the complete sequenc-
ing of the human genome in 1991. An understanding of DNA structure
also permitted the development of methods to clone and manipulate
DNA (recombinant DNA technology), as well as alter the sequence of
DNA using site directed mutagenesis to gain insights into the function of
individual proteins. The advent of the molecular biology revolution also
allowed us to begin to understand how genes are regulated. The regu-
lation of gene expression is not only the key to our understanding of how
genes are turned on and off, but to how genes are regulated in a tis-
sue specific manner, how cellular differentiation occurs, and how tissues
and organs develop. From the development of simple methods to clone,
sequence, and manipulate DNA came a realization of its power to help
solve the genetic basis of human disease. This, in turn, resulted in the
development and evolution of the Biotechnology Industry, an industry
that was founded to develop ways to synthesize hormones, enzymes
and other proteins, rather than rely on their purification from natural
sources. The production of hormones in the laboratory made it practical
to treat patients on a large scale for the first time.
The description of the “double helix” by Watson and Crick, while a
watershed discovery, was not the beginning of our understanding of the
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