Case study
Oragene®/saliva kit enables easy at-home collection
while delivering high quality DNA suitable for a largescale genome-wide association study (GWAS)
and Next Generation Sequencing (NGS)
Dr. Shiro Ikegawa“Your Oragene/saliva kit is reallyuseful. We are using it in many
fields of genome research relating
to human diseases – for mutation
analysis, exome sequencing andGWAS genotyping – resulting insuccessful publications.”
Dr. Shiro Ikegawa, Laboratory ofBone and Joint Diseases, Center for
Integrative Medical Sciences, RIKEN,Tokyo, Japan

Center for Integrative Medical Sciences, Laboratory of Bone and Joint Diseases
RIKEN, Tokyo, Japan

Introduction
Dr. Shiro Ikegawa is a lead investigator for the Laboratory of Bone and Joint
Diseases at the RIKEN Center for Integrative Medical Sciences in Japan.
Dr. Ikegawa and his study team are using genome analysis to better understand anddiagnosis monogenic and polygenic diseases of the locomotive system, includingrare diseases like skeletal dysplasia, and common diseases like osteoarthritis,
osteoporosis and disc degeneration. They have discovered 17 disease genes forskeletal dysplasias and 6 susceptibility genes for common diseases throughout
multiple ongoing research studies, many of which have benefited from the useof Oragene®/saliva collection kits for non-invasive at-home collection.

Study overview
Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that
protrudes into the epidural space from a defect in the dura mater. Early diagnosis
is important to prevent cyst expansion that can compress the spinal cord andcause irreversible neurological defects. Familial SEDAC cases have been reported,suggesting genetic etiological factors. These cases have been associated withlymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. To gain
further insight into the genetic etiology of SEDAC, Dr. Ikegawa’s study team
examined FOXC2 mutations in 17 SEDAC subjects, 10 familial and 7 sporadic
cases, by exome sequencing, Sanger sequencing and TaqMan® copy number assay.

Oragene device
prior to collection

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Superior samples
Proven performanceCollection methods consideredAt-home collection was required to obtain samples of family members whocould not come into a clinic for collection. Furthermore, the study team wanted
a non-invasive alternative to blood draws to increase donor compliance andavoid difficulties with stabilizing and transporting blood samples. Buccal swabs,a hair/nail kit, and Oragene/saliva samples were considered to meet theircollection requirements.

Why Oragene/saliva collection kits?
While DNA collection through buccal, hair, and nail samples are non-invasive
alternatives to blood draws, they all deliver minimal, often negligible, quantities
of DNA that can be highly degraded by bacteria. Theses collection options
can result in unreliable DNA recovery and failures on downstream analysis.
The Oragene/saliva self-collection kit offered the study group a non-invasive
and patient-friendly alternative that reliably delivers high quantity, high quality
DNA that performs as well as blood for GWAS and Next Generation Sequencing.
Furthermore, as the Oragene chemistry stabilizes high-molecular weight DNA atroom temperature for many years, transporting and storing the samples prior toanalysis was not a concern to DNA integrity.

Results
DNA was easily collected at the donors’ homes using Oragene/saliva kits andfull compliance was achieved. The patients and family members were quite happy
to be freed from the physical and economical burden of coming to hospitals
for blood collection. The DNA yield and quality extracted were reported byDr. Ikegawa as quite good for GWAS genotyping and whole exome sequencing.
Through their genomic analysis, Dr. Ikegawa and his research group showed that
the FOXC2 mutation is one of the etiological factors of SEDAC, although othergene(s) are likely to be involved. As a result of their work, patients and their family
members will be able to use genetic screening to evaluate their risk before
developing irreversible neurological defects.

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Oragene®•DISCOVER is for research use only, not for use in diagnostic procedures.
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Superior samples • Proven performance
MK-00343 Issue 1/2014-04© 2014 DNA Genotek Inc., a subsidiary of OraSure Technologies, Inc., all rights reserved.

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