Novel substitution polymorphisms of human immunoglobulin VH genes in Mexicans

It has been proposed that the defense and recognition functions of the immune system, especially those mediated by antibodies, require a great diversity of receptors. Nonetheless, functional and structural evidence has demonstrated the presence of restrictions, both in the use of the repertoire and in the recognition of antigens. Fifty-one functional genes have been described in the IghV locus; however, there is a variety of evidences indicating that only a small fraction of the immunoglobulin genes plays a central role in determining the fundamental properties of the antibody repertoire of the immune system. On the basis of this functional and structural information, we selected four IghV genes and characterized their polymorphism in a sample of Mexican individuals. We also analyzed the implications for the recognition mechanism of the substitutions found in the sequenced alleles. We found that diversification through allelism varies from segment to segment, both in the amount of alleles encountered and in the nature and distribution of mutations in the codifying zone, which might depend on its importance for the repertoire. Such functional characteristics may be useful in the interpretation of differential gene usage in certain physiological, ontological, and/or pathological conditions.