Expansion of Genetic Testing in the Division of Functional Genomics,Research Center for Bioscience and Technology,Tottori University from 2000 to 2013

Background

At the Division of Functional Genomics, Research Center forBioscience and Technology, Tottori University, we have been making an effort to establisha genetic testing facility that can provide the same screening procedures conductedworldwide.

Methods

Direct Sequencing of PCR products is the main method to detect pointmutations, small deletions and insertions. Multiplex Ligation-dependent ProbeAmplification (MLPA) was used to detect large deletions or insertions. Expansion of therepeat was analyzed for triplet repeat diseases. Original primers were constructed for 41diseases when the reported primers failed to amplify the gene. Prediction of functionaleffects of human nsSNPs (PolyPhen) was used for evaluation of novelmutations.

Results

From January 2000 to September 2013, a total of 1,006 DNA sampleswere subjected to genetic testing in the Division of Functional Genomics, Research Centerfor Bioscience and Technology, Tottori University. The hospitals that requested genetictesting were located in 43 prefectures in Japan and in 11 foreign countries. The genetictesting covered 62 diseases, and mutations were detected in 287 out of 1,006 with anaverage mutation detection rate of 24.7%. There were 77 samples for prenatal diagnosis.The number of samples has rapidly increased since 2010.

Conclusion

In 2013, the next-generation sequencers were introduced in ourfacility and are expected to provide more comprehensive genetic testing in the nearfuture. Nowadays, genetic testing is a popular and powerful tool for diagnosis of manygenetic diseases. Our genetic testing should be further expanded in the future.