The BGMUT (Blood Group antigen gene MUTation) Database documents
allelic
An allele is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule.
Alleles can differ at a single position through single nucleotide polymorphisms (SNP), but they can also have insertions and deletions ...
variations in the genes encoding for
human blood group systems
The term human blood group systems is defined by the International Society of Blood Transfusion (ISBT) as systems in the human species where cell-surface antigens—in particular, those on blood cells—are "controlled at a single gene locus or ...
.
It was set up in 1999 through an initiative of the Human Genome Variation Society (
HGVS
A large goods vehicle (LGV), or heavy goods vehicle (HGV), in the European Union (EU) is any lorry with a Gross combined weight rating, gross combination mass (GCM) of over . Sub-category N2 is used for vehicles between 3,500 kg and and N ...
). Since 2006, it has been a part of the dbRBC (database Red Blood Cells) resource of
NCBI
The National Center for Biotechnology Information (NCBI) is part of the National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH). It is approved and funded by the government of the United States. The NCBI is loca ...
at the
NIH
The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...
. In addition to being a repository of the genetic variations of the blood group antigen-encoding genes, the database also provides information on the blood group systems, the genes that encode them, the
serological
Serology is the scientific study of serum and other body fluids. In practice, the term usually refers to the diagnostic identification of antibodies in the serum. Such antibodies are typically formed in response to an infection (against a given mi ...
phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological propert ...
s associated with the alleles of the genes, etc. Information on genetic variations in some non-human
orthologous
Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a speci ...
genes is also provided.
References
External links
* {{cite web , url = https://www.ncbi.nlm.nih.gov/gv/rbc/ , title = Blood Group Antigen Gene Mutation Database (BGMUT) , vauthors=Blumenfeld OO, Patnaik SK , date = , work = dbRBC , publisher =
NCBI
The National Center for Biotechnology Information (NCBI) is part of the National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH). It is approved and funded by the government of the United States. The NCBI is loca ...
at the
NIH
The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...
, access-date = 2011-07-17
Biological databases