[Genetic aspects of atherogenic dyslipoproteinemias].
Beyond persistent underestimation of atherogenic dyslipoproteinemias of genetic origin, which account altogether for one out of 50 births, and even more, considerable advances have been done, in the last past years, about molecular and genetic basis of metabolic defects, and possible various mutations--at this level. These major advances include not only the discovery of LDL Apo B100 receptor pathway by M. Brown and J. Goldstein with various mutations about synthesis or cellular processing of these receptors, but also some critical amino acid substitutions in molecular sequence of apoprotein E, as well as apoprotein A1, A2, and perhaps, also apoprotein B. Chromosomal localisation of all these coding genes, and identification of there exons and introns are also available. And practical use of genetic probes could appear promising a very next future.
D001053:Apolipoproteins / Q000235:genetics; D001161:Arteriosclerosis / Q000235:genetics*; D002874:Chromosome Mapping; D014644:Genetic Variation; D006801:Humans; D006951:Hyperlipoproteinemias / Q000235:genetics*; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics
D001053:Apolipoproteins; D011973:Receptors, LDL
Aspects génétiques des dyslipoprotéinémies athérogènes.