GENETIC VARIATION ASSOCIATED WITH APLASTIC ANEMIA, AND DIAGNOSIS AND THERAPY BASED THEREON

摘要

The present invention relates to identification of a gene that is inactivated in an aplastic anemia. In particular, the invention concerns mutations that disrupt a ribosomal protein (RP), preferably RP S19, in Diamond-Blackfan Anemia (DBA). Recombinant nucleic acids encoding mutant forms of DBA, oligonucleotides specific for such mutations, and diagnostic and therapeutic applications related to these discoveries, are also contemplated.