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Genetics researchers at the University of Otago, in collaboration with Myriad Genetics at Salt Lake City in Utah, have developed a new technique that makes large-scale gene screening much cheaper.
Senior Research Fellow in the University's Department of Biochemistry Dr Tony Merriman says technology has changed. "We can literally genotype, or show the genetic make-up of, all the 25,000 genes in a person's genome at a single time - but it is still an expensive process."
The researchers' latest research into the genetics behind rheumatoid arthritis has seen them focus on what are known as single nucleotide polymorphisms (SNiPs), which are small changes in the DNA sequence between one person and the next.
"A small proportion of these SNiPs will cause disease. But there is now 'Affymetrix' technology to genotype half-a-million of these SNiPs at once," says Dr Merriman.
Crudely speaking, they are able to genotype samples from a group of people with rheumatoid arthritis and then genotype a control group of people who don't have the disease and look at the differences between the two.
What Dr Merriman and his collaborators have done is develop a method which allows them to pool the DNA of all the people with the disease into one sample, and then do the same for all of the control group.
"This reduces the amount of genotyping necessary and makes it far cheaper," he explains. "This method will be good for countries like New Zealand where funding may not be readily available for a normal genome-wide scan, or for rarer diseases that are harder to get research funding for."
Dr Merriman says the researchers have verified the accuracy of the method by using it to "rediscover" the gene PTPN22, which they had previously confirmed as one of the factors behind rheumatoid arthritis. Their findings have been published in the US-based journal Genes and Immunity.
Their main collaborator at Myriad Genetics is senior scientist Dr Kirsten Timms, who is a University of Otago Biochemistry graduate.
"Myriad have been fantastic and we will continue to work with them but having readily accessible genome-wide SNiP scanning technology here would open up genome-wide scans for NZ researchers."
Editor's Note: Original news release can be found here.
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