title: [A clue for discovery and recent progress in gene abnormalities].
abstract: With the striking progress in analytic technology for detecting gene abnormalities, genetic analysis, such as polymerase chain reaction (PCR), has become a routine procedure in laboratory medicine. Consequently, the role of laboratory medicine in detecting genetic disease is increasing. However, in the process of genetic analysis maintaining consistency with clinical expression is necessary. In this symposium, the discussion includes the following items: (1) Genetic analysis of Maple Syrup Urine Disease (MSUD), (2) Analytic study of abnormal antithrombin III (TOYAMA), (3) Diagnostic procedures for anemia attributed to RBC membrane protein abnormality, (4) Genetic analysis of LDH-M subunit deficiency, (5) Development of a new prospect for hereditary hyperlipidemia, (6) Genetic analysis of hormone resistance syndromes: T3 receptor abnormality, and (7) Etiologic genetic analysis of pituitary cretinism. In general, DNA analysis in these cases can demonstrate wide variations in gene structural abnormalities. In MSUD, for instance, enzyme abnormalities, which occur in enzyme complex of various kinds include E1 alpha, beta, or E2. Currently, the cell fusion method, and PCR-SSCP method, miss-match PCR-DGGE method and so on are commonly used analytic methods. To sum up the issues discussed at this symposium, the most important function of genetic analysis is to clarify the relationship between the many clinical phenotypic expressions and the essential abnormality in the structure of the gene and/or function of the controlling proteins.
authors.affiliation: Department of Laboratory Medicine, Hamamatsu University School of Medicine.
authors.forename: T
authors.initials: T
authors.lastname: Kanno
authors.forename: N
authors.initials: N
authors.lastname: Amino
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005796:Genes; D006801:Humans; D016133:Polymerase Chain Reaction