1,000 Unknown Genetic Mutations In Human Could Help Experts In Blood Transfusion

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A quarter of the century after Human Genome Project's launch, another breakthrough was being revealed. Genes from a group of healthy individuals were investigated using a new software. From these genes 1,000, new mutations have been discovered.

According to National Human Genome Research Institute, the Human Genome Project was one of the great feats of exploration in history that mapped all the genes and their sequences. Completed in April 2003, the National Human Genome Project gives humans the ability to read nature's complete genetic blueprint for building a human being.

A physician and former programmer Mattias Mӧller from Lund University in Sweden has developed a new software that helps decode and identify human genome found in the blood. He imported genetic sequences from the 2,504 healthy individuals to his newly developed database Erythrogene and match them against to previously known genetic variances and discovered 1,000 unknown mutations from those genes which could have negative effects in case of blood transfusion.

Mӧller, in his statement in Science Daily, explains that it there has never been a worldwide mapping of blood group genes in healthy individuals. "Most previously known blood group variants were discovered when a blood transfusion failed when it did not work between the donor and the recipient." He added, "I started genes instead, to find variations in the DNA which might give rise to a new antigen that will likely to cause a problem during transfusion."

It is important to identify the different types of human blood and match these blood group types for blood transfusion, in pregnancy and before certain types of transplantation, since every blood cell's surface has a protein and sugar molecules which will give rise to antigens even in a small variance. By not matching the blood group types can lead to transfusion reaction that will rapture the blood cells and eventually will cause the person's death.

Mattias Mӧller's recent discovery of the 1,000 unknown mutations sums up to the among the 11 percent remaining of the genetic variance previously known. "Of course, not all variants were previously lead to antigens. But we need to go on and conduct further analyses to investigate how the genetic expression changes, like how molecules on the surface of the cell are affected", Mӧller said.

Further research is still ongoing and has mapped 352 antigens. Since the current study is only focusing on North American and European populations, researchers are aiming towards Africa where there is a greater variation between different population groups. And as the population of Africa increases, the combination with blood transfusions are becoming more common and many new antigens are likely to be discovered.