Swedish researchers told how they discovered 1,000 new mutations in blood group genes using new software.
Mattias Möller, of Lund University’s Department of Laboratory Medicine, processed the genomes of 2,504 people using his computer programme, importing them to his newly developed database Erythrogene.
He matched them against previously known genetic variants and discovered 1,000 unknown mutations.
“Never before has there been a worldwide mapping of blood group genes in healthy individuals,” said Möller, whose findings have been published in Blood Advances.
“Most previously known blood group variants were discovered when a blood transfusion failed. I started from the genes instead, to find variations in DNA which might give rise to a new antigen likely to cause problems in case of transfusion, for example.”
Möller’s study showed that 89% of the genetic variants were already known, but that 1,000 mutations were found in the remaining 11%. None of them are included in official catalogues of known blood group variants, he says.
“Of course, not all variants lead to new antigens, but we need to go on and conduct further analyses to investigate how the genetic expression changes,” he said.
There are 352 mapped antigens, but the research has focused on populations in Europe and North America.
A future research field is Africa, where there is greater variation between different population groups and as that research grows, plus an increase in blood transfusions, the discovery of new antigens is likely.
“It has been incredibly exciting to combine my knowledge as a programmer and researcher to design this database in a format which is easy to use in transfusion medicine,” said Möller.
“Now researchers can dig deeper into the results, and it is also easy to extend the database with other genes responsible for human disease or data from new major genetic mapping projects.”
Reference: Möller M, Jöud M, Storry J et al. Erythrogene: a database for in-depth analysis of the extensive variation in 36 blood group systems in the 1000 Genomes Project. Blood Advances 2016 1:240-249; doi:
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