IllumIna
®
EpIgEnEtIcs
DNA Methylation Analysis
Illumina provides a broad portfolio of DNA Methylation Analysis solutions. Each product
supports different ranges of multiplex and sample throughput levels for use in any
experimental design.
INTRODUCTION
Epigenetic mechanisms play
important roles during normal
development
1
, aging
2
, and a variety
of disease conditions. Numerous
studies have implicated aberrant
methylation in the etiology of
common human disease, including
cancer, MS, diabetes, and schizophre-
nia
3,4
. Hypermethylation of CpG
islands located in the promoter
regions of tumor suppressor genes
is rmly established as the most
frequent mechanism for gene
activation in cancers
5,6
.
Methylation of the 5’ carbon of
cytosine is a form of epigenetic
modication that does not affect the
primary DNA sequence, but affects
secondary interactions that play a
critical role in the regulation of gene
expression. Aberrant DNA methyla-
tion may suppress transcription
and subsequently gene expression.
DNA methylation has typically been
studied in a locus-targeted manner
because effective tools for perform-
ing global analyses were unavailable.
Now with Illumina high-through-
put proling assays, true genome-
wide analysis of DNA methylation
and its widespread impacts on gene
regulation can be easily studied.
Illumina has developed a portfolio
of products with unprecedented
capabilities for studying DNA
methylation—covering the spectrum
from genome-wide scans to focused
studies and biomarker validation—
to provide unique insights into the
role of epigenetics in gene regulation
(Figure 2).
ILLUMINA DNA METHYLATION
ANALYSIS PORTFOLIO
Illumina offers a broad portfolio of
methylation analysis products to
Figure 2: illumina methylation analysis products cover a wide
range oF multiplex and throughput levels
Illumina offers several DNA methylation profiling products, covering the spectrum
of applications from high multiplex to high throughput.
VERACODE
®
METHYLATION
GOLDENGATE
®
METHYLATION
INFINIUM
®
METHYLATION
Throughput (Samples / Assay)
Multiplex Level
(CpG Loci / Sample)
27,000
1,536
192
48
4812 96
>100
Figure 1: dna methylation
DNA methylation is one of several epigenetic modifications. A methyl group is
covalently attached to cytosine C
5
. When DNA is treated with bisulfite, unmethylated
cytosines are converted to uracil, but methylated cytosines are protected.
Me
Me
Me
Me
Me
Me
NH
2
C
C
C
N
C
N
O
NH
2
C
C
C
N
C
N
O
CH
3
Unmethylated Methylated
C C
Bisulfite
Conversion
O
C
C
C
N
C
N
O
U
NH
2
C
C
C
N
C
N
O
CH
3
C
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