Genetic analysis is standard for investigating the cause of leukemia and for deriving the optimal treatment strategy for diseases also known as blood cancer. A research team from Bochum and Essen has examined a new methodology that offers more accuracy. The so-called optical genome mapping produced more precise information on the genetic basis of the disease in two thirds of all cases examined. The team led by Prof. Dr. Huu Phuc Nguyen, chair of human genetics at the Ruhr University Bochum (RUB), and Prof. Dr. Roland Schroers, head of the hematology, oncology, stem cell / immunotherapy department at the Knappschaftskrankenhaus University Hospital, reports in the International Journal of Cancer.
Laser lights up molecules
For optical genome mapping, very long molecules of the human genome are obtained, for example, from routinely taken blood samples or bone marrow material from patients. These long DNA molecules are marked with luminous dye molecules at over half a million different positions of the entire human genome and passed through very thin nanocannels on a special chip. As the DNA molecules move through the nanocannels, they are made to glow with a laser and photographed using a microscope. The images of the entire genome are then analyzed bioinformatically. "The aim is to find and evaluate changes in regions that are important for the development of cancer," explains Dr. Wanda Gerding from Bochum's human genetics.