Simple DNA Test Could Identify the Risk of Inherited Diseases

An inexpensive, fast, and accurate test using a drop of saliva pinpoints variations at critical points along the DNA chain.

Researchers from the University of Edinburgh (UK) developed the new method, which is based on dynamic chemical analysis, and delivers reliable results without the need for the expensive enzymes used in conventional DNA testing. The new method allows the analysis of single-nucleotide polymorphism, indel, and abasic sites using mass spectrometry as a readout tool. Differences or omissions in the DNA code could then show if someone is healthy, susceptible to disease, or is suffering from a serious medical condition.

Currently, the test can look for genetic variations for only one disease at a time, but the researchers hope the technique could be used eventually to decode the whole human genome, which would give information about genetic variations across the whole spectrum of disease. The test takes about 30 minutes, and the methodology is suitable for the dual analysis of heterozygous samples. The study describing the new technique was published in the February 2010 issue of the journal Angewandte Chemie.

"What we have developed is a way of testing chemically; that means not using enzymes, which are the current method,” said lead author Juan Diaz-Mochon, Ph.D., of the school of chemistry. "The technology offers a speedy, cost-efficient alternative to existing methods of DNA analysis.”

"The test could help spot diseases, such as pancreatic cancer, early. It could also indicate if someone had a risk of other diseases, such as heart problems or dementia,” added coauthor Prof. Mark Bradley, Ph.D. "We plan to test the technology further, extend our collaborations with leading researchers and companies in the DNA sequencing field, and establish our first commercial operations within the next six months.”

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