Blood Type
Multiple Alleles
The genetic basis of the ABO blood group system is an example of multiple alleles. There are three alleles, A, B, and O, at the ABO locus on chromosome 9. The expression of the O allele is recessive to that of A and B, which are said to be co-dominant. Thus, the genotypes AO and AA express blood type A, BO and BB express blood type B, AB expresses blood type AB, and OO expresses blood type O. In the past, ABO blood group typing was used extensively both in forensic cases as well as for paternity testing. More recently, DNA testing, which is much more informative, has superseded these tests.
The ABO blood group substances are glycoproteins, the basic molecule of which is known as the H substance. This H substance is present in unmodified form in individuals with blood type O. Adding extra sugar molecules to the H substance produces the A and B substances. The frequency of the ABO blood types varies widely across the globe. For example, blood group B has a frequency of 25 percent in Asians, 17 percent in Africans, but only 8 percent in Caucasians. The frequency of blood group O in Europe increases as one travels from southern to northern countries.
Alleles at a locus independent of the ABO blood group locus, known as the secretor locus, determine an individual's ability to secrete the ABO blood group substances in saliva and other body fluids. There are two genes, Se and se, where Se is dominant to se. In other words, an individual with at least one Se gene is a secretor. Approximately 77 percent of Europeans are secretors. This frequency is rarely less than 50 percent and sometimes as high as 100 percent in other populations.
An interesting aspect of the ABO blood groups is their association with disease. Among individuals with stomach and peptic ulcers, there is an excess of type O individuals, whereas among those with cancer of the stomach, there is an excess of type A individuals. Not all type O individuals have an increased risk for peptic or stomach ulcers, however. If type O individuals are secretors, they are protected against ulceration, whereas non-secretors have a two-fold increased risk. Thus the presence of ABO blood group substances act as a protective agent against the development of stomach and peptic ulcers.
Additional topics
Medicine EncyclopediaGenetics in Medicine - Part 1Blood Type - Antigens And Antibodies, Multiple Alleles, The Rh System