title: Molecular genetics--new horizons in haematology.
abstract: The unprecedentedly swift developments in molecular genetics has opened up a new era in biology and medicine. The powerful methods of recombinant DNA (rDNA) technology are fast moving into the fields of diagnostics and therapy since the newly found ability to define physiological and pathological cell functions at a molecular level. The centerpiece of molecular genetics is the possibility to map and determine the fine structure of human genes and to define in molecular terms how each gene controls all the enzymes of energy metabolism, structural proteins of cells, the membrane proteins, including transport proteins and receptors, the plasma proteins and those proteins which participate in the synthesis of complex lipids, carbohydrates, lipoproteins and glycoproteins. The fundamental change of emphasis in cellular and clinical research in medicine started in haematology. No wonder, since the circulating blood cells, the bone marrow, and lymphoid tissue cells are easily available for investigation and most of the haematological diseases are well defined entities. This review will try to present the increasing depth and broadening spectrum of molecular haematology by arbitrary chosen examples: 1) Molecular regulation of cell specific gene expression and of age specific switch of the globin genes, 2) Revisiting the haemolysis of paroxysmal nocturnal haemoglobinuria (PNH) cells--the phosphatidylinositol-glycan (PIG) anchored membrane proteins, 3) Molecular genetics of the ABO and Rh blood group specificity, 4) The regulation of stem cells and the multistep process of their malignant transformation. 5) The impact of gene technology on diagnostics, prevention and therapy in haematology, 6) The present state of art and future possibilities of the treatment of genetic diseases.
authors.affiliation: National Institute of Haematology and Blood Transfusion, Budapest, Hungary.
authors.forename: S
authors.initials: S
authors.lastname: Hollán
mesh_terms: D000017:ABO Blood-Group System; D015703:Antigens, CD / Q000235:genetics; D018957:CD59 Antigens; D005544:Forecasting; D005786:Gene Expression Regulation; D005914:Globins / Q000235:genetics; D006405:Hematology / Q000379:methods*; D006410:Hematopoiesis; D006412:Hematopoietic Stem Cells / Q000502:physiology; D006453:Hemoglobinopathies / Q000235:genetics; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D008967:Molecular Biology; D012204:Rh-Hr Blood-Group System
chemical_list: D000017:ABO Blood-Group System; D015703:Antigens, CD; D018957:CD59 Antigens; D008562:Membrane Glycoproteins; D012204:Rh-Hr Blood-Group System; D005914:Globins