Professor Emerita, Department of Biochemistry
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 15 years ago, 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, named Blood Group Antigen Gene Mutation Database (BGMUT), 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 engaged in curating the database.
Patnaik K.P. and Blumenfeld O.O. Use of On-Line Tools and Databases for Routine Sequence Analyses. Anal. Biochem, 289, 1-9, 2001.
Blumenfeld O.O.Mutation Databases and Other On-Line Sites as a Resource for Transfusion Medicine: History and Attributes. Transfusion Medicine Reviews. 2002, 16:103-114
Blumenfeld O.O. and Patnaik K. P.Allelic Genes of Blood Group Antigens: A Source of Human Mutations and cSNPs Documented in the Blood Group Antigen Gene Mutation Database.Human Mutation. 2004, 23:8-16
Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, Elmitski L, Cutting G, Trumbower H, Kern A, Kuhn R, Patrinos GP, Hughes J, Higgs D, Chui D, Scriver C, Phommarinh M, Patnaik KP, Blumenfeld O, Gottlieb B, Vihinen J, Kent J, Miller W, Hardison RC. PhenCode: Connecting ENCODE Data with Mutations and Phenotype. Human Mutation. 2007, 28:554-562
Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT. Recommendations for locus-specific databases and their curation. Human Mutatation. 2008 29(1):2-5.PMID: 18157828
Patnaik SK, Blumenfeld OO. Patterns of human genetic variation inferred from comparative analysis of allelic mutations in blood group antigen genes. Hum. Mutat. 2011 Mar;32(3):263-71. PubMed 21312314
Patnaik SK, Helmberg W, Blumenfeld OO. BGMUT: NCBI dbRBC database of allelic variations of genes encoding antigens of blood group systems. Nucleic Acids Res. 2012 Jan;40(1):D1023-9. PubMed 22084196
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Albert Einstein College of Medicine
Jack and Pearl Resnick Campus
1300 Morris Park Avenue
Forchheimer Building, Room 329SA
Bronx, NY 10461