Open AccessThe molecular biology of blood groups
Author(s) -
Daniels G.
Publication year - 2009
Publication title -
isbt science series
Language(s) - English
Resource type - Journals
eISSN - 1751-2824
pISSN - 1751-2816
DOI - 10.1111/j.1751-2824.2009.01253.x
Subject(s) - gene , biology , somatic cell , genetics , blood group antigens , mutation , microbiology and biotechnology , antigen
The genes representing all but one of the 30 human blood group systems have been identified and sequenced, and the molecular bases to almost all of the blood group polymorphisms are known. Though most blood group polymorphisms result from single nucleotide polymorphisms, a variety of other mechanisms can also be involved. Some blood group variants result from mutations in genes independent of the blood group gene, such as the gene encoding a transcription factor. Some blood group proteins exist in the membrane as part of large protein complexes. Mutations in a gene encoding one of the proteins of the complex can affect antigen expression on other proteins of the same complex. In addition to inherited blood group variants, somatic mutation can also affect blood group expression.