[Genotyping of hyperlipoproteinemia].
In lipoprotein metabolism are involved many proteins among which are apolipoproteins, lipoprotein receptors, lipases and lipid transfer proteins. Recent years the DNAs have been cloned for almost all of these proteins and their construction has been characterized. Through the analysis of the cases with inherited lipid disorders, the molecular basis of hyperlipoproteinemia has been elucidated and the functional domains of the proteins have been clarified, which enabled us the genotyping of hyperlipoproteinemia. So far, many mutations and polymorphisms have been identified to explain the genesis of hyperlipoproteinemias. However, for the majority of the cases, genetic causes are still ambiguous, and some of them are supposed to be rather polygenic. This review deal with the characteristics of the genes involved in lipoprotein metabolism and the genetic mechanisms including gene-gene interaction which are considered to give a rise to hyperlipoproteinemias.
Matsushima
T
T
Department of Internal Medicine, University of Tsukuba.
D001059:Apoproteins / Q000235:genetics; D005838:Genotype; D006801:Humans; D006951:Hyperlipoproteinemias / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics; D008074:Lipoproteins / Q000378:metabolism; D009154:Mutation; D011110:Polymorphism, Genetic; D011973:Receptors, LDL / Q000235:genetics
D001059:Apoproteins; D008074:Lipoproteins; D011973:Receptors, LDL; D008071:Lipoprotein Lipase