Old church records and Transgenomic's Wave nucleic acid fragment analysis system are being brought together in the north of Sweden to investigate a variety of familial diseases
According to Urban Hellman, research engineer in medical genetics at Umea University, "This research is possible because the Swedish church has records dating back to the sixteenth century and because northern Sweden has been quite isolated up until the last century.
In addition, in Umea we have a blood bank of samples from the local population available for approved research projects." The Wave system uses a highly sensitive HPLC method to detect the presence of mutations.
A DNA sample is hybridised with a reference DNA, and if a mutation is present the temperature at which the two strands separate is lowered.
The Wave system provides a rapid and automated way of measuring this temperature change.
Urban Hellman was clear about the reasons for his group's choice of the Transgenomic system: "The Wave system is the only way to search for unknown mutations with any degree of high throughput and there just wasn't anything else on the market that suited our specifications.
We use the system clinically to look for one transthyretin related amyloidosis, cystic fibrosis, and colon cancer.
On the research side the applications are increasing all the time.
We are looking for loss of heterozygosity and mutations in a whole range of diseases - stroke, migraine, breast cancer, hypertrophic cardiomyopathy, retinitis pigmentosa, multiple sclerosis, and focal non-epidermolytic palmoplantar keratoderma ....
so far!"
