Biology Reference
In-Depth Information
Chapter 9
Characterization of RNA
Marcel P. Van der Brug , Mar Matarin , and Taura L. Barr
Abstract
Gene expression profi ling of mRNA in the brain and the peripheral blood, is increasingly important to
validate diagnostic and prognostic signatures of disease and prediction of outcome, as well as support
pharmacogenomic approaches to novel treatment strategies. Variation of gene expression is an integral
mechanism underlying susceptibility to complex disease and is directly modifi ed by polymorphisms in
regulatory elements. Thus, the study of gene expression profi les that correlate with DNA variants is a
powerful and complementary approach to the detection of novel risk loci. In this chapter, we discuss cur-
rent methods for mRNA isolation and purifi cation from the peripheral blood and the brain. We also
describe accepted and novel methods for mRNA characterization (e.g., Microarrays, RNA sequencing,
Northern blots, and RT-PCR) with applicability to human disease.
Key words: Microarray, RNA sequencing, Northern blots, RT-PCR
1. Introduction
Gene expression (or mRNA expression) can be measured accu-
rately and consistently in tissues and cell lines in both humans and
animals. Many studies have described the genetic basis of transcrip-
tional variation and have convincingly demonstrated that it is a
heritable trait.
Traditional genetic studies have examined segments of an
entire gene sequence of interest; however, more recently with the
advent of genomic technologies it is feasible to study tens of thou-
sands of differential mRNA species simultaneously. Gene expres-
sion profi ling involves the study of mRNA in a biological sample to
determine the expression levels of genes that are expressed or tran-
scribed from genomic DNA. This technology can rapidly provide a
detailed view of the simultaneous expression of the entire genome
and provide new insights into gene function, disease pathophysiol-
ogy, disease classifi cation, and drug development. Gene expression
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