Butcher, Carolyn Marie2019-11-202019-11-202003http://hdl.handle.net/2440/121989Aims to determine whether mutations of the gene encoding hβc (CSF2RB) are present in Polycythemia vera. Two possible PV specific single nucleotide substitutions were detected that result in non-conservative amino acid substitutions, F451S and R472I, within the transmembrane and the intracytopasmic box 1 motifs of hβc, Discusses the potential significance of these alterations with regard to receptor signalling and PV. In addition, an alternatively-spliced variant of hβc ([delta]1041-1045) was identified in both normal and PV patient samples. This mRNA species encodes a truncated, soluble form of the receptor and is expressed at a low level in PBMNC.enCellular signal transduction Hematopoietic growth factors Polycythemia vera -- GeneticsThesis