A new bioinfomatics pipeline solves a 50-year-old blood group puzzle

Currently, a lot is known about which genes are responsible for our individual blood groups, however not much is understood about how and why the levels of the blood group molecules differ between one person and another. This can be important for blood transfusion safety. Now a research group at Lund University in Sweden has developed a toolbox that finds the answer -- and in doing so, has solved a 50-year-old mystery.

Since routine genetic analysis could not answer this question, the research group turned its attention to a group of proteins called transcription factors. These are molecules that can recognise different"landing" sites in DNA and work a little like a light switch to turn off/turn down genes or get them to express more strongly. Thus, transcription factors are important for the production of different proteins in the cells.

"Margaret Helgeson was a medical technologist in Minneapolis in the 1970s who was trying to find compatible blood for a patient in need of a blood transfusion. Despite her best efforts she could not find any suitable blood units. In desperation, she tested her own blood, and to her surprise, found it to be a match," recounted Jill Storry, adjunct professor of experimental transfusion medicine at Lund University and one of the researchers behind the study.

"Based on what we know now, we can improve the laboratory tests. Our goal is to update the existing DNA-based chip that is used for blood group tests with the new variant, which will result in a safer diagnostic test," says Gloria Wu.With the help of this data-driven, bioinfomatic pipeline, which makes it possible to get a comprehensive grip on how our blood group genes are regulated, the research group can continue to apply more of their findings to other blood groups.

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