[Progress in biochemical and genetic examinations in clinical laboratory of cardiovascular diseases].
For diagnosing cardiovascular emergencies, cardiologists mainly rely on physiological examinations. Biochemical laboratory examinations can facilitate emergency diagnosis and genetic diagnosis can facilitate a fundamental understanding of cardiovascular diseases. Recent progress in biochemical examinations for cardiovascular diseases includes measurement of troponin T, heart type fatty acid-binding protein, and LDL-cholesterol. Recent progress in genetic examinations includes analysis of mitochondrial DNA, obesity-related genes and single nucleotide polymorphisms. A safe and convenient system of collecting, transporting, and storing blood and other biological specimens, and the subsequent purification of genomic DNA from the stored specimens is available. Therefore, busy doctors and staff of clinical laboratory can plan subsequent DNA examinations without causing concern and pain. A recently reported human mutation of heterotrimeric G protein beta 3 subunit produces a gain-of-function G protein signaling abnormality. A common polymorphic base substitution, C825T, in the GNB3 gene is associated with an aberrantly spliced transcript lacking 123 nucleotides. A significant association of the T allele with essential hypertension or obesity has been suggested.
Murakami
T
T
Department of Laboratory Medicine, Hokkaido University School of Medicine, Sapporo.
Ozaki
T
T
Iizuka
K
K
Kawaguchi
H
H
D002318:Cardiovascular Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D019411:Clinical Laboratory Techniques; D020732:Cytogenetic Analysis; D006801:Humans