Last updated on April 20, 2014 at 14:04 EDT

Roche’s Sequence Capture Technology Used to Identify SMPX Mutations Underlying Human Hereditary Hearing Loss

January 12, 2012

MADISON, Wisconsin, January 12, 2012 /PRNewswire/ –

Hereditary hearing loss is the most common sensory disorder in humans. A German
research team led by Ingo Kurth from the Institute of Human Genetics
[http://www.humangenetik.uniklinikum-jena.de/Institut+f%C3%BCr+Humangenetik.html ] at the
University Hospital Jena [http://www.med.uni-jena.de ], Germany, used a number of
different methods, including Roche’s NimbleGen Custom Sequence Capture 385K array to
identify the gene mutated in the disease locus of the X-chromosome of a Spanish family
with hereditary hearing loss (1).

Targeted enrichment was performed by the German Service Provider ATLAS Biolabs
[http://www.atlas-biolabs.de ] GmbH. In particular, the DNA of two affected males was
subjected to target enrichment. Subsequent sequencing analysis at the Cologne Center for
Genomics (CCG) resulted in the identification of a total of 3858 and 3443 X-chromosomal
variants for each of these two individuals. Furthermore, a nonsense mutation in the small
muscle protein, X-linked (SMPX) of the affected individuals had been detected. Nonsense
mutations are significant, because they are point mutation
[http://en.wikipedia.org/wiki/Point_mutation ]s in a sequence
[http://en.wikipedia.org/wiki/DNA_sequence ] of DNA [http://en.wikipedia.org/wiki/DNA ]
that cause a premature stop codon [http://en.wikipedia.org/wiki/Stop_codon ], or a
nonsense codon in the transcribed [http://en.wikipedia.org/wiki/Transcription_(genetics) ]
mRNA [http://en.wikipedia.org/wiki/MRNA ], resulting in a truncated
[http://en.wikipedia.org/wiki/Truncation ], incomplete, and usually nonfunctional protein
[http://en.wikipedia.org/wiki/Protein ]. Based on their findings, the authors propose that
long-term maintenance of mechanically stressed inner ear cells critically depends on SMPX

The NimbleGen Sequence Capture technology [http://www.nimblegen.com/products/seqcap ]
is a sophisticated process for the parallel enrichment of selected genomic regions from
complex human genomic DNA. Sequence Capture allows enrichment of target regions in a
single experiment, replacing the need to perform numerous PCR reactions. The efficiencies
of parallel enrichment are an ideal complement for cost-effective, high throughput
next-generation sequencing.

        1) Huebner et al., American Journal of Human Genetics, Vol. 88: 621-627, May
          13, 2011

About Roche

Headquartered in Basel, Switzerland, Roche is a leader in research-focused healthcare
with combined strengths in pharmaceuticals and diagnostics. Roche is the world’s largest
biotech company with truly differentiated medicines in oncology, virology, inflammation,
metabolism and CNS. Roche is also the world leader in in-vitro diagnostics, tissue-based
cancer diagnostics and a pioneer in diabetes management. Roche’s personalised healthcare
strategy aims at providing medicines and diagnostic tools that enable tangible
improvements in the health, quality of life and survival of patients. In 2010, Roche had
over 80,000 employees worldwide and invested over 9 billion Swiss francs in R&D. The Group
posted sales of 47.5 billion Swiss francs. Genentech, United States, is a wholly owned
member of the Roche Group. Roche has a majority stake in Chugai Pharmaceutical, Japan. For
more information: http://www.roche.com.

For life science research only. Not for use in diagnostic procedures.

NIMBLEGEN and SEQCAP are trademarks of Roche.

Other brands or product names are trademarks of their respective holders.

        Roche Diagnostics
        Dr. Burkhard Ziebolz
        Tel.: +49-(0)8856-604830
        E-Mail: burkhard.ziebolz@roche.com

        Roche NimbleGen
        Kary Staples
        Tel.: +1-608-218-7623
        E-Mail: kary.staples@roche.com

SOURCE Roche Diagnostics

Source: PR Newswire