Olga O. Blumenfeld, Ph.D.

Polymorphism and Molecular Genetics of Human Glycophorins

Interests of our laboratory have been directed, over the years, to the understanding of the molecular basis for the polymorphisms that a large number of proteins display in the population. A model for our studies were the antigens of the MNSs blood group system. Those erythrocyte membrane glycoproteins are members of the Glycophorin A gene family. We elucidated the actual or deduced structures of close to thirty variant glycophorins and demonstrated that gene rearrangements between glycophorin family members were important mechanisms leading to allelic variants. Today, the molecular basis for the polymorphisms of all the major blood group antigens, such as Rh, ABO, Duffy, etc., has been elucidated. The impact of those studies in Transfusion Medicine is growing rapidly. More generally, these studies are adding information to an ever-growing body of data on human DNA alterations, including the type and extend of mutations and gene rearrangements that can modify structures of human genes.
About 10 years,  with help from Santosh K. Patnaik (at the time a student in the Department of Cell Biology), we created a database, in which the information on most alleles of genes encoding human blood group antigens is now compiled. The database, Blood Group Antigen Gene Mutation Database, is  now hosted by NCBI and is part of dbRBC; it can be accessed at http://www.ncbi.nlm.nih.gov/projects/mhc/xslcgi.fcgi?cmd=bgmut/home. I am still in charge of curating the database.